V108G (p.Val108Gly) variant of CD79A (P11912)
V108G (p.Val108Gly) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inherited Immunodeficiency Diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
V108G (p.Val108Gly) variant details
- p.Val108Gly
- rs1600631294
- ClinGen CA406034602
- ClinVar RCV001027560
- Ensembl rs1600631294
- Pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.52
- MetaLR 0.36
- MetaSVM -0.70
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available