R860G (p.Arg860Gly) variant of CACNA1C (Q13936)
R860G (p.Arg860Gly) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
R860G (p.Arg860Gly) variant details
- p.Arg860Gly
- UniProt VAR 075159
- Likely pathogenic
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.90
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT8)
- UniProt: Pathogenic (in LQT8)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)