A50T (p.Ala50Thr) variant of CD79A (P11912)
A50T (p.Ala50Thr) in CD79A (P11912) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs557160710
- cosmic curated COSV10583
- TOPMed rs557160710
- gnomAD rs557160710
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.39
- CADD 23.20
- PolyPhen-2 0.75
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available