C41A (p.Cys41Ala) variant of RAG2 (P55895)
C41A (p.Cys41Ala) in RAG2 (P55895) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C41A (p.Cys41Ala) variant details
- p.Cys41Ala
- gnomAD 11-36594048-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 24.10
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.771
- Literature evidence available