G47C (p.Gly47Cys) variant of RNF207 (RING finger protein 207)
G47C (p.Gly47Cys) 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.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- gnomAD 1-6206674-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.45
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available