E7D (p.Glu7Asp) variant of PRRT2 (Q7Z6L0)
E7D (p.Glu7Asp) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- gnomAD 16-29813075-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available