P8H (p.Pro8His) variant of RNF207 (RING finger protein 207)
P8H (p.Pro8His) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- gnomAD 1-6206558-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.09
- CADD 23.40
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available