M27T (p.Met27Thr) variant of KCNE1 (P15382)
M27T (p.Met27Thr) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M27T (p.Met27Thr) variant details
- p.Met27Thr
- rs749957298
- ClinGen CA320425503
- ClinVar RCV001365642
- ClinVar RCV002504601
- Uncertain significance
- Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5; Long Q)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00055)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.36
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)