A13E (p.Ala13Glu) variant of BCR (P11274)
A13E (p.Ala13Glu) 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 0.51 / 1. The record also includes population frequency data and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- 1000Genomes rs199561166
- TOPMed rs199561166
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.36
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available