K19Q (p.Lys19Gln) variant of PRRT2 (Q7Z6L0)
K19Q (p.Lys19Gln) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K19Q (p.Lys19Gln) variant details
- p.Lys19Gln
- rs775000504
- ClinGen CA7994470
- ClinVar RCV001228756
- ExAC rs775000504
- Likely benign
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.05
- CADD 0.64
- PolyPhen-2 0.00
- ClinVar: Likely benign (Episodic kinesigenic dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available