G709A (p.Gly709Ala) variant of RAG1 (P15918)
G709A (p.Gly709Ala) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
G709A (p.Gly709Ala) variant details
- p.Gly709Ala
- rs1850829046
- ClinGen CA380154053
- ClinVar RCV001050136
- Ensembl rs1850829046
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.90
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available