S63C (p.Ser63Cys) variant of RAG2 (P55895)
S63C (p.Ser63Cys) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S63C (p.Ser63Cys) variant details
- p.Ser63Cys
- gnomAD 11-36593981-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.03
- 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 0.115
- Literature evidence available