S51R (p.Ser51Arg) variant of SCN8A (Nav1.6)
S51R (p.Ser51Arg) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
S51R (p.Ser51Arg) variant details
- p.Ser51Arg
- Ensembl rs2138671231
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.40
- ESM-1b 0.54
- AlphaMissense 0.36
- MetaLR 0.70
- MetaSVM 0.28
- SIFT 0.00
- Structural context available