E32Q (p.Glu32Gln) variant of CD79B (P40259)
E32Q (p.Glu32Gln) 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 0.11 / 1. The record also includes population frequency data and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- rs772746914
- ClinGen CA8708656
- cosmic curated COSV10720
- ClinVar RCV002681565
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.15
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available