P4S (p.Pro4Ser) variant of MS4A1 (B-lymphocyte antigen CD20)
P4S (p.Pro4Ser) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs200768099
- ClinGen CA6024848
- ClinVar RCV002046682
- ClinVar RCV004038819
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.18
- MetaLR 0.21
- MetaSVM -0.78
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available