G18A (p.Gly18Ala) variant of RAG2 (P55895)
G18A (p.Gly18Ala) in RAG2 (P55895) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- TOPMed rs1851106893
- gnomAD rs1851106893
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.685