E48K (p.Glu48Lys) variant of MS4A1 (B-lymphocyte antigen CD20)
E48K (p.Glu48Lys) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- cosmic curated COSV61941
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.24
- MetaLR 0.15
- MetaSVM -0.81
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available