P71L (p.Pro71Leu) variant of SCN4A (Nav1.4)
P71L (p.Pro71Leu) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- ExAC rs781057451
- gnomAD rs781057451
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.42
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available