S63Y (p.Ser63Tyr) variant of RAG2 (P55895)
S63Y (p.Ser63Tyr) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S63Y (p.Ser63Tyr) variant details
- p.Ser63Tyr
- gnomAD rs1233958711
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score 0.115