R22L (p.Arg22Leu) variant of BCR (P11274)
R22L (p.Arg22Leu) in BCR (P11274) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- cosmic curated COSV99045
- 1000Genomes rs376532812
- ESP rs376532812
- ExAC rs376532812
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.06
- CADD 20.10
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available