F31S (p.Phe31Ser) variant of RAG2 (P55895)
F31S (p.Phe31Ser) 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, and structural context.
F31S (p.Phe31Ser) variant details
- p.Phe31Ser
- Ensembl rs1851105495
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.84
- CADD 28.80
- PolyPhen-2 0.93
- 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 -0.194