S43N (p.Ser43Asn) variant of MS4A1 (B-lymphocyte antigen CD20)
S43N (p.Ser43Asn) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- 1000Genomes rs767323323
- ExAC rs767323323
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.01
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available