L52F (p.Leu52Phe) variant of MS4A1 (B-lymphocyte antigen CD20)
L52F (p.Leu52Phe) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- cosmic curated COSV61943
- Ensembl rs2086256808
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.29
- MetaLR 0.06
- MetaSVM -1.05
- CADD 20.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available