P38T (p.Pro38Thr) variant of SCN8A (Q9UQD0)
P38T (p.Pro38Thr) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
P38T (p.Pro38Thr) variant details
- p.Pro38Thr
- Ensembl rs1940952941
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.71
- MetaSVM 0.31
- SIFT 0.00
- Structural context available