E10V (p.Glu10Val) variant of RNF207 (RING finger protein 207)
E10V (p.Glu10Val) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- gnomAD 1-6206564-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.10
- CADD 24.20
- PolyPhen-2 0.45
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available