G11V (p.Gly11Val) variant of RNF207 (RING finger protein 207)
G11V (p.Gly11Val) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 1-6206567-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available