F12L (p.Phe12Leu) variant of MS4A1 (B-lymphocyte antigen CD20)
F12L (p.Phe12Leu) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- gnomAD 11-60462410-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.08
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available