E7A (p.Glu7Ala) variant of PRRT2 (Q7Z6L0)
E7A (p.Glu7Ala) in PRRT2 (Q7Z6L0) 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.
E7A (p.Glu7Ala) variant details
- p.Glu7Ala
- gnomAD 16-29813074-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.15
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available