Y68H (p.Tyr68His) variant of SCN4A (Nav1.4)
Y68H (p.Tyr68His) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y68H (p.Tyr68His) variant details
- p.Tyr68His
- ExAC rs762663150
- gnomAD rs762663150
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.73
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available