G37R (p.Gly37Arg) variant of CACNA1C (Q13936)
G37R (p.Gly37Arg) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar and UniProt describe it as benign/likely benign in the context of Long QT syndrome 8; Brugada syndrome 3; Timothy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- UniProt VAR 075149
- Benign/Likely benign
- Long QT syndrome 8; Brugada syndrome 3; Timothy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.66
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Benign/Likely benign (Long QT syndrome 8; Brugada syndrome 3; Timothy syndrome)
- UniProt: Likely benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Cited in: Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. (PMID 20817017)
- Cited in: Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. (PMID 25633834)