Q4H (p.Gln4His) variant of RAG2 (P55895)
Q4H (p.Gln4His) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q4H (p.Gln4His) variant details
- p.Gln4His
- Ensembl rs1851109380
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.58
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 0.09
- 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 -0.141