L155H (p.Leu155His) variant of RAG2 (P55895)
L155H (p.Leu155His) in RAG2 (P55895) 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 0.53 / 1. The record also includes structural context.
L155H (p.Leu155His) variant details
- p.Leu155His
- rs1064793250
- ClinGen CA380142948
- ClinVar RCV001346295
- TOPMed rs1064793250
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.83
- MetaLR 0.57
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.19
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available