P35R (p.Pro35Arg) variant of RNF207 (RING finger protein 207)
P35R (p.Pro35Arg) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- gnomAD 1-6206639-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.90
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available