Y74S (p.Tyr74Ser) variant of RAG2 (P55895)
Y74S (p.Tyr74Ser) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y74S (p.Tyr74Ser) variant details
- p.Tyr74Ser
- cosmic curated COSV57557
- ExAC rs749971416
- gnomAD rs749971416
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.42
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.34
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.133