P66H (p.Pro66His) variant of SCN8A (Q9UQD0)
P66H (p.Pro66His) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P66H (p.Pro66His) variant details
- p.Pro66His
- rs1940955829
- ClinGen CA385228265
- ClinVar RCV001198519
- Ensembl rs1940955829
- Uncertain significance
- Developmental and epileptic encephalopathy, 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 13)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)