C67W (p.Cys67Trp) variant of RAG2 (P55895)
C67W (p.Cys67Trp) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C67W (p.Cys67Trp) variant details
- p.Cys67Trp
- gnomAD 11-36593968-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.87
- CADD 26.00
- 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 -0.562
- Literature evidence available