D43E (p.Asp43Glu) variant of RNF207 (RING finger protein 207)
D43E (p.Asp43Glu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- gnomAD 1-6206664-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.20
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.82
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available