C78Y (p.Cys78Tyr) variant of RAG2 (P55895)
C78Y (p.Cys78Tyr) 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 and structural context.
C78Y (p.Cys78Tyr) variant details
- p.Cys78Tyr
- gnomAD rs1454524571
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.67
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available