P12R (p.Pro12Arg) variant of RNF207 (RING finger protein 207)
P12R (p.Pro12Arg) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- gnomAD 1-6206570-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.09
- CADD 9.19
- PolyPhen-2 0.05
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available