P70T (p.Pro70Thr) variant of SCN1A (P35498)
P70T (p.Pro70Thr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
P70T (p.Pro70Thr) variant details
- p.Pro70Thr
- rs2105982466
- ClinGen CA349242808
- ClinVar RCV006557989
- Ensembl rs2105982466
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.09
- MetaLR 0.90
- MetaSVM 0.93
- PolyPhen-2 0.24
- SIFT 0.01
- EVE 0.14
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available