S28L (p.Ser28Leu) variant of KCNE1 (P15382)
S28L (p.Ser28Leu) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNE1-related disorder; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S28L (p.Ser28Leu) variant details
- p.Ser28Leu
- rs199473350
- ClinGen CA331973
- NCI-TCGA Cosmic COSV6160
- cosmic curated COSV61606
- Uncertain significance
- KCNE1-related disorder; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.10
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (KCNE1-related disorder; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance (in LQT5)
- UniProt: Uncertain significance (in LQT5)
- Most common in the African/African-American population (allele frequency 5.3e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.27
- 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)