A42T (p.Ala42Thr) variant of CD79B (P40259)
A42T (p.Ala42Thr) 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.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs1908053121
- ClinGen CA400605671
- cosmic curated COSV50085
- ClinVar RCV002755908
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.29
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0006)
- Structural context available