A5V (p.Ala5Val) variant of CD79B (P40259)
A5V (p.Ala5Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs748240443
- ClinGen CA8708698
- cosmic curated COSV10583
- ClinVar RCV001204451
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.12
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available