P9T (p.Pro9Thr) variant of SCN1A (P35498)
P9T (p.Pro9Thr) in SCN1A (P35498) 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 0.63 / 1. The record also includes structural context.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- rs757688309
- ClinGen CA349243470
- ClinVar RCV003110097
- TOPMed rs757688309
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.24
- MetaLR 0.88
- MetaSVM 0.76
- PolyPhen-2 0.10
- SIFT 0.02
- EVE 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available