K19E (p.Lys19Glu) variant of PRRT2 (Q7Z6L0)
K19E (p.Lys19Glu) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- ExAC rs775000504
- gnomAD rs775000504
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.04
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.05
- CADD 5.29
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available