L52V (p.Leu52Val) variant of MS4A1 (B-lymphocyte antigen CD20)
L52V (p.Leu52Val) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- ESP rs202217903
- ExAC rs202217903
- TOPMed rs202217903
- gnomAD rs202217903
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.31
- MetaLR 0.06
- MetaSVM -1.10
- CADD 12.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available