L95P (p.Leu95Pro) variant of SCN10A (Nav1.8)
L95P (p.Leu95Pro) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L95P (p.Leu95Pro) variant details
- p.Leu95Pro
- TOPMed rs2064291016
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.87
- MetaLR 0.94
- MetaSVM 1.05
- CADD 29.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available