A7P (p.Ala7Pro) variant of SCN8A (Q9UQD0)
A7P (p.Ala7Pro) in SCN8A (Q9UQD0) 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 0.51 / 1. The record also includes structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- rs896109778
- ClinGen CA385227412
- NCI-TCGA Cosmic COSV6198
- cosmic curated COSV61980
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.83
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available