W317L (p.Trp317Leu) variant of RAG2 (P55895)
W317L (p.Trp317Leu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
W317L (p.Trp317Leu) variant details
- p.Trp317Leu
- Ensembl rs1851068697
- Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available