S63F (p.Ser63Phe) variant of RAG2 (P55895)
S63F (p.Ser63Phe) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S63F (p.Ser63Phe) variant details
- p.Ser63Phe
- gnomAD 11-36593981-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.94
- CADD 26.40
- PolyPhen-2 0.99
- 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 0.115
- Literature evidence available