Q58H (p.Gln58His) variant of SCN9A (Q15858)
Q58H (p.Gln58His) in SCN9A (Q15858) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q58H (p.Gln58His) variant details
- p.Gln58His
- 1000Genomes rs6432901
- ESP rs6432901
- ExAC rs6432901
- TOPMed rs6432901
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- MetaLR 0.80
- MetaSVM 0.67
- CADD 19.20
- PolyPhen-2 0.10
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available