G18V (p.Gly18Val) variant of RAG2 (P55895)
G18V (p.Gly18Val) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs1851106893
- ClinGen CA380144975
- ClinVar RCV001063225
- ClinVar RCV004765346
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.685