V65I (p.Val65Ile) variant of RAG1 (P15918)
V65I (p.Val65Ile) 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 0.22 / 1. The record also includes population frequency data and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs750032999
- ClinGen CA380145849
- ClinVar RCV001363006
- ExAC rs750032999
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.17
- MetaLR 0.26
- MetaSVM -0.82
- CADD 11.60
- PolyPhen-2 0.02
- SIFT 0.48
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available