R54L (p.Arg54Leu) variant of CD19 (B-lymphocyte antigen CD19)
R54L (p.Arg54Leu) in CD19 (B-lymphocyte antigen CD19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- cosmic curated COSV61188
- ESP rs150438147
- ExAC rs150438147
- TOPMed rs150438147
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -0.97
- CADD 13.30
- PolyPhen-2 0.47
- SIFT 0.04
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available