P78L (p.Pro78Leu) variant of SCN10A (Q9Y5Y9)
P78L (p.Pro78Leu) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- ExAC rs780804421
- gnomAD rs780804421
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.86
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available