P12S (p.Pro12Ser) variant of RNF207 (RING finger protein 207)
P12S (p.Pro12Ser) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 1-6206569-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.03
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available