E33D (p.Glu33Asp) variant of RNF207 (RING finger protein 207)
E33D (p.Glu33Asp) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD 1-6206634-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available