C40F (p.Cys40Phe) variant of RNF207 (RING finger protein 207)
C40F (p.Cys40Phe) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C40F (p.Cys40Phe) variant details
- p.Cys40Phe
- gnomAD 1-6206654-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available