A17V (p.Ala17Val) variant of RNF207 (RING finger protein 207)
A17V (p.Ala17Val) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 1-6206585-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- CADD 13.40
- PolyPhen-2 0.10
- SIFT 0.28
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available