V35E (p.Val35Glu) variant of RAG1 (P15918)
V35E (p.Val35Glu) 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 0.66 / 1. The record also includes population frequency data and structural context.
V35E (p.Val35Glu) variant details
- p.Val35Glu
- rs1414071641
- ClinGen CA380145514
- ClinVar RCV001977949
- gnomAD rs1414071641
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.71
- MetaLR 0.57
- MetaSVM 0.23
- CADD 26.20
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available