C45S (p.Cys45Ser) variant of RNF207 (RING finger protein 207)
C45S (p.Cys45Ser) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C45S (p.Cys45Ser) variant details
- p.Cys45Ser
- gnomAD 1-6206668-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available