A14V (p.Ala14Val) variant of MS4A1 (B-lymphocyte antigen CD20)
A14V (p.Ala14Val) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- 1000Genomes rs568202047
- ExAC rs568202047
- TOPMed rs568202047
- gnomAD rs568202047
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.05
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available