D56E (p.Asp56Glu) variant of SCN10A (Q9Y5Y9)
D56E (p.Asp56Glu) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D56E (p.Asp56Glu) variant details
- p.Asp56Glu
- ExAC rs759227621
- TOPMed rs759227621
- gnomAD rs759227621
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.36
- MetaLR 0.82
- MetaSVM 0.66
- CADD 22.00
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available