V13L (p.Val13Leu) variant of SCN9A (Nav1.7)
V13L (p.Val13Leu) in SCN9A (Nav1.7) 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 0.60 / 1. The record also includes population frequency data and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- ExAC rs779738791
- gnomAD rs779738791
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.79
- MetaSVM 0.25
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.66
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available