P66R (p.Pro66Arg) variant of SCN8A (Nav1.6)
P66R (p.Pro66Arg) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
P66R (p.Pro66Arg) variant details
- p.Pro66Arg
- rs1940955829
- ClinGen CA385228267
- ClinVar RCV001799961
- Ensembl rs1940955829
- Uncertain significance
- not provided
- 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 (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available