G3A (p.Gly3Ala) variant of CD79A (P11912)
G3A (p.Gly3Ala) 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 0.32 / 1. The record also includes population frequency data and structural context.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- rs782206373
- ClinGen CA9465478
- ClinVar RCV002016343
- ExAC rs782206373
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.22
- CADD 12.30
- PolyPhen-2 0.35
- SIFT 0.07
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available