Y83H (p.Tyr83His) variant of SCN1A (Nav1.1)
Y83H (p.Tyr83His) in SCN1A (Nav1.1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y83H (p.Tyr83His) variant details
- p.Tyr83His
- gnomAD rs1362796016
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.59
- MetaLR 0.96
- MetaSVM 1.23
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available