G27V (p.Gly27Val) variant of CD79A (P11912)
G27V (p.Gly27Val) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- rs2074204427
- ClinGen CA406033964
- ClinVar RCV001295939
- TOPMed rs2074204427
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.25
- MetaLR 0.54
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.55
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available