E10K (p.Glu10Lys) variant of PRRT2 (Q7Z6L0)
E10K (p.Glu10Lys) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- 1000Genomes rs529418384
- ExAC rs529418384
- gnomAD rs529418384
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.28
- CADD 24.20
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available