A17P (p.Ala17Pro) variant of RNF207 (RING finger protein 207)
A17P (p.Ala17Pro) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- gnomAD 1-6206584-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0594
- REVEL 0.02
- CADD 7.82
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available
- Literature evidence available