K15Q (p.Lys15Gln) variant of KCNE1 (P15382)
K15Q (p.Lys15Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements, published literature, and structural context.
K15Q (p.Lys15Gln) variant details
- p.Lys15Gln
- rs2516765058
- ClinGen CA410198596
- ClinVar RCV004522760
- ClinVar RCV004780726
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Functional MAVE scores for KCNE1: score 1.56
- Cited in: Long QT Syndrome Overview. (PMID 20301308)