1:11103530-11103530 G > A

Classification

Category 3 non_synonymous
CMH MAF 9 / 13144 samples (0.0685%)
9 het., 0 hom. (100%)
9 / 26288 total alleles (0.0342%)

gene: MASP2 synonym(s): MAP19, MASP-2, MASP1P1, sMAP, MASP2, ENSG00000009724

OMIM
OMIM:605102: MASP2
OMIM:613791: MASP2 deficiency

NM_006610.3 [CDS]
hgvs_c: NM_006610.3:c.607C>T
reference AA: R
variant AA: W
reference codon: Cgg
variant codon: Tgg
cDNA pos: 639
CDS pos: 607
translation impact: non_synonymous
protein sequence: NP_006601.2
AA pos: 203
hgvs_p: NP_006601.2:p.Arg203Trp
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.67)

rs373318594
TOPMED_MAF = 0.00009556574923547

EVS
EVS MAF (European American/African American/All) = 0.000233,0.000228,0.000231

ExAC African, (2 / 7526), 0.0266%
gnomAD North-Western European, (12 / 49880), 0.0241%