A46S (p.Ala46Ser) variant of RNF207 (RING finger protein 207)
A46S (p.Ala46Ser) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- gnomAD 1-6206671-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.40
- CADD 18.90
- PolyPhen-2 0.49
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available