1:205128698-205128698 G > A

Classification

Category 4 curation
CMH MAF 48 / 13144 samples (0.365%)
48 het., 0 hom. (100%)
48 / 26288 total alleles (0.183%)

gene: DSTYK synonym(s): DustyPK, HDCMD38P, RIP5, RIPK5, DSTYK, ENSG00000133059

OMIM
OMIM:612666: DSTYK
OMIM:610805: Congenital anomalies of kidney and urinary tract 1
OMIM:270750: Spastic paraplegia 23

NM_015375.2 [CDS]
hgvs_c: NM_015375.2:c.2215C>T
reference AA: R
variant AA: W
reference codon: Cgg
variant codon: Tgg
cDNA pos: 2279
CDS pos: 2215
translation impact: non_synonymous
protein sequence: NP_056190.1
AA pos: 739
hgvs_p: NP_056190.1:p.Arg739Trp
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)

rs114762711
GMAF = 0.001797
TOPMED_MAF = 0.00271566004077471

EVS
EVS MAF (European American/African American/All) = 0.003488,0.000227,0.002384

ExAC America/Latino, (54 / 8804), 0.613%
gnomAD Ashkenazi Jewish, (372 / 10216), 3.64% curated_classification = 4