F62C (p.Phe62Cys) variant of RAG2 (P55895)
F62C (p.Phe62Cys) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F62C (p.Phe62Cys) variant details
- p.Phe62Cys
- gnomAD 11-36593984-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.96
- CADD 26.20
- PolyPhen-2 1.00
- 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 0.0669
- Literature evidence available