V14I (p.Val14Ile) variant of PRRT2 (Q7Z6L0)
V14I (p.Val14Ile) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- rs1304660738
- ClinGen CA395477046
- ClinVar RCV002966701
- TOPMed rs1304660738
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.06
- CADD 4.18
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available