V14L (p.Val14Leu) variant of PRRT2 (Q7Z6L0)
V14L (p.Val14Leu) 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 0.15 / 1. The record also includes population frequency data and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- TOPMed rs1304660738
- gnomAD rs1304660738
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.05
- CADD 5.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available