S43I (p.Ser43Ile) variant of MS4A1 (B-lymphocyte antigen CD20)
S43I (p.Ser43Ile) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S43I (p.Ser43Ile) variant details
- p.Ser43Ile
- 1000Genomes rs767323323
- ExAC rs767323323
- gnomAD rs767323323
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.07
- CADD 17.90
- PolyPhen-2 0.41
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available