V95L (p.Val95Leu) variant of SCN4A (Nav1.4)
V95L (p.Val95Leu) in SCN4A (Nav1.4) 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 0.72 / 1. The record also includes population frequency data and structural context.
V95L (p.Val95Leu) variant details
- p.Val95Leu
- 1000Genomes rs543813038
- ExAC rs543813038
- gnomAD rs543813038
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.71
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available