C41C (p.Cys41Cys) variant of RAG2 (P55895)
C41C (p.Cys41Cys) in RAG2 (P55895) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C41C (p.Cys41Cys) variant details
- p.Cys41Cys
- rs121917895
- gnomAD 11-36594046-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 0.96
- CADD 9.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.771
- Literature evidence available