W36C (p.Trp36Cys) variant of RAG2 (P55895)
W36C (p.Trp36Cys) in RAG2 (P55895) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W36C (p.Trp36Cys) variant details
- p.Trp36Cys
- gnomAD 11-36594059-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 29.80
- Population evidence available
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.32
- Literature evidence available