G35A (p.Gly35Ala) variant of RAG2 (P55895)
G35A (p.Gly35Ala) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 2 deficiency. 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.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- rs148508754
- ClinGen CA214209
- ClinVar RCV000030395
- ClinVar RCV000681571
- Pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.291