A8V (p.Ala8Val) variant of KCNE1 (P15382)
A8V (p.Ala8Val) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Long QT syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs199473348
- ClinGen CA211446
- cosmic curated COSV61607
- ClinVar RCV000119082
- Uncertain significance
- Cardiovascular phenotype; not specified; Long QT syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 4.31
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Long QT syndrome 5)
- EBI: Variant of uncertain significance (in LQT5)
- UniProt: Uncertain significance (in LQT5)
- Most common in the HGDP:BALOCHI population (allele frequency 0.031)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.39
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)