G77R (p.Gly77Arg) variant of SCN5A (Nav1.5)
G77R (p.Gly77Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Atrial fibrillation, familial, 10; SUDDEN INFANT DEATH SYNDR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G77R (p.Gly77Arg) variant details
- p.Gly77Arg
- rs1228779956
- ClinGen CA352158017
- cosmic curated COSV60067
- ClinVar RCV001842688
- Uncertain significance
- Cardiac arrhythmia; Atrial fibrillation, familial, 10; SUDDEN INFANT DEATH SYNDR
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.30
- ClinVar: Uncertain significance (Cardiac arrhythmia; Atrial fibrillation, familial, 10; SUDDEN IN)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)