G35V (p.Gly35Val) variant of RAG2 (P55895)
G35V (p.Gly35Val) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RAG2-related disorder; Severe combined immunodeficiency disease; Combined immuno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- rs148508754
- ClinGen CA380144622
- cosmic curated COSV10942
- ClinVar RCV000681572
- Pathogenic/Likely pathogenic
- RAG2-related disorder; Severe combined immunodeficiency disease; Combined immuno
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.89
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (RAG2-related disorder; Severe combined immunodeficiency disease;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.291