D16E (p.Asp16Glu) variant of RNF207 (RING finger protein 207)
D16E (p.Asp16Glu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- gnomAD 1-6206583-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0778
- REVEL 0.04
- CADD 9.36
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available