P75A (p.Pro75Ala) variant of RAG2 (P55895)
P75A (p.Pro75Ala) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P75A (p.Pro75Ala) variant details
- p.Pro75Ala
- cosmic curated COSV10027
- gnomAD rs1173275643
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.179