G68D (p.Gly68Asp) variant of SCN10A (Q9Y5Y9)
G68D (p.Gly68Asp) 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.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- gnomAD rs1227118356
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.86
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available