T10M (p.Thr10Met) variant of KCNE1 (P15382)
T10M (p.Thr10Met) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T10M (p.Thr10Met) variant details
- p.Thr10Met
- rs144917638
- ClinGen CA211441
- ClinVar RCV000119089
- ClinVar RCV000148515
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign (in LQT5)
- UniProt: Likely benign (in LQT5)
- Most common in the Middle Eastern population (allele frequency 0.0013)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.42
- 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)