C328Y (p.Cys328Tyr) variant of RAG1 (P15918)
C328Y (p.Cys328Tyr) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
C328Y (p.Cys328Tyr) variant details
- p.Cys328Tyr
- rs121918571
- ClinGen CA122922
- ClinVar RCV000014046
- ClinVar RCV000820844
- Pathogenic/Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical… (PMID 11133745)
- Cited in: Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. (PMID 18056378)