H481D (p.His481Asp) variant of RAG2 (P55895)
H481D (p.His481Asp) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes population frequency data and structural context.
H481D (p.His481Asp) variant details
- p.His481Asp
- rs762054841
- ClinGen CA5950415
- ClinVar RCV003793654
- ExAC rs762054841
- Pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.91
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available