D41H (p.Asp41His) variant of SCN9A (Q15858)
D41H (p.Asp41His) in SCN9A (Q15858) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- 1000Genomes rs529727269
- ExAC rs529727269
- TOPMed rs529727269
- gnomAD rs529727269
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.13
- MetaLR 0.92
- MetaSVM 1.08
- CADD 23.50
- SIFT 0.00
- MutPred 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available