V45C (p.Val45Cys) variant of RAG2 (P55895)
V45C (p.Val45Cys) in RAG2 (P55895) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V45C (p.Val45Cys) variant details
- p.Val45Cys
- rs1397294905
- gnomAD 11-36594022-ATCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 28.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.296
- Literature evidence available