A28T (p.Ala28Thr) variant of CACNA1C (Q13936)
A28T (p.Ala28Thr) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Brugada syndrome 3; Long QT syndrome 8; Timothy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- UniProt VAR 075148
- Conflicting interpretations
- Brugada syndrome 3; Long QT syndrome 8; Timothy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.76
- CADD 22.60
- PolyPhen-2 0.22
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Brugada syndrome 3; Long QT syndrome 8; Timothy syndrome)
- EBI: Variant of uncertain significance (in LQT8)
- UniProt: Uncertain significance (in LQT8)
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available
- 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)