Q33H (p.Gln33His) variant of RAG2 (P55895)
Q33H (p.Gln33His) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- cosmic curated COSV57560
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.51
- CADD 13.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.001