K50E (p.Lys50Glu) variant of MS4A1 (B-lymphocyte antigen CD20)
K50E (p.Lys50Glu) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- gnomAD 11-60462522-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.26
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available