A17D (p.Ala17Asp) variant of RNF207 (RING finger protein 207)
A17D (p.Ala17Asp) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- gnomAD 1-6206585-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- CADD 12.90
- PolyPhen-2 0.10
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available