A13G (p.Ala13Gly) variant of BCR (P11274)
A13G (p.Ala13Gly) in BCR (P11274) is a missense change. Clinical records from ClinVar, EBI, 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 0.45 / 1. The record also includes population frequency data and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- 1000Genomes rs199561166
- TOPMed rs199561166
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.27
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available