C45R (p.Cys45Arg) variant of RNF207 (RING finger protein 207)
C45R (p.Cys45Arg) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C45R (p.Cys45Arg) variant details
- p.Cys45Arg
- gnomAD 1-6206668-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.96
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available