A4S (p.Ala4Ser) variant of RNF207 (RING finger protein 207)
A4S (p.Ala4Ser) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 1-6206545-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available