C78R (p.Cys78Arg) variant of RAG2 (P55895)
C78R (p.Cys78Arg) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C78R (p.Cys78Arg) variant details
- p.Cys78Arg
- gnomAD 11-36593937-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.77
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available