S34T (p.Ser34Thr) variant of KCNE1 (P15382)
S34T (p.Ser34Thr) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
S34T (p.Ser34Thr) variant details
- p.Ser34Thr
- ESP rs376479233
- ExAC rs376479233
- gnomAD rs376479233
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Structural context available
- Functional MAVE scores for KCNE1: score 1.31