S72L (p.Ser72Leu) variant of SCN9A (Q15858)
S72L (p.Ser72Leu) in SCN9A (Q15858) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S72L (p.Ser72Leu) variant details
- p.Ser72Leu
- ExAC rs745418676
- gnomAD rs745418676
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- MetaLR 0.92
- MetaSVM 1.05
- CADD 24.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available