K19* (p.Lys19Ter) variant of PRRT2 (Q7Z6L0)
K19* (p.Lys19Ter) in PRRT2 (Q7Z6L0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
K19* (p.Lys19Ter) variant details
- p.Lys19Ter
- rs775000504
- ClinGen CA395477096
- ClinVar RCV003594584
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.68
- EVE 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available