A13V (p.Ala13Val) variant of BCR (P11274)
A13V (p.Ala13Val) in BCR (P11274) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10000
- 1000Genomes rs199561166
- TOPMed rs199561166
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.29
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available