H140Y (p.His140Tyr) variant of RAG2 (P55895)
H140Y (p.His140Tyr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, 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.
H140Y (p.His140Tyr) variant details
- p.His140Tyr
- rs147155709
- cosmic curated COSV57559
- ClinVar RCV005225063
- ClinVar RCV005610823
- Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.98
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available