F6V (p.Phe6Val) variant of RNF207 (RING finger protein 207)
F6V (p.Phe6Val) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F6V (p.Phe6Val) variant details
- p.Phe6Val
- gnomAD 1-6206551-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.19
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available