E477K (p.Glu477Lys) variant of CACNA1C (Q13936)
E477K (p.Glu477Lys) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
E477K (p.Glu477Lys) variant details
- p.Glu477Lys
- UniProt VAR 075153
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.58
- CADD 25.90
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 8)
- EBI: Variant of uncertain significance (in LQT8)
- UniProt: Uncertain significance (in LQT8)
- Most common in the East Asian population (allele frequency 0.00019)
- Cited in: Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. (PMID 25633834)
- Cited in: Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C… (PMID 23677916)