E7Q (p.Glu7Gln) variant of PRRT2 (Q7Z6L0)
E7Q (p.Glu7Gln) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- gnomAD 16-29813073-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.04
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available