H52Y (p.His52Tyr) variant of RAG2 (P55895)
H52Y (p.His52Tyr) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H52Y (p.His52Tyr) variant details
- p.His52Tyr
- gnomAD 11-36594015-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.33
- CADD 17.20
- PolyPhen-2 0.06
- SIFT 0.01
- 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 -0.318
- Literature evidence available