E31K (p.Glu31Lys) variant of PRRT2 (Q7Z6L0)
E31K (p.Glu31Lys) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD 16-29813145-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.03
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available