G752R (p.Gly752Arg) variant of SCN5A (Nav1.5)
G752R (p.Gly752Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G752R (p.Gly752Arg) variant details
- p.Gly752Arg
- rs199473153
- ClinGen CA016002
- NCI-TCGA Cosmic COSV6112
- cosmic curated COSV61125
- Pathogenic
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in BRGDA1 and PFHB1A)
- UniProt: Pathogenic (in BRGDA1 and PFHB1A)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients… (PMID 12106943)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)