G47V (p.Gly47Val) variant of RNF207 (RING finger protein 207)
G47V (p.Gly47Val) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- gnomAD 1-6206675-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.71
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available