A16V (p.Ala16Val) variant of CD79B (P40259)
A16V (p.Ala16Val) in CD79B (P40259) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 6, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs114330958
- ClinGen CA8708694
- cosmic curated COSV50079
- ClinVar RCV001054030
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- CADD 4.75
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available