V14A (p.Val14Ala) variant of PRRT2 (Q7Z6L0)
V14A (p.Val14Ala) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- gnomAD rs1425079924
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.05
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available