S49F (p.Ser49Phe) variant of MS4A1 (B-lymphocyte antigen CD20)
S49F (p.Ser49Phe) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- cosmic curated COSV61943
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -0.98
- CADD 25.20
- PolyPhen-2 0.77
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available