S43R (p.Ser43Arg) variant of SCN8A (Q9UQD0)
S43R (p.Ser43Arg) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- TOPMed rs1265928949
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.63
- MetaLR 0.70
- MetaSVM 0.11
- SIFT 0.04
- Structural context available