A185T (p.Ala185Thr) variant of SCN5A (Nav1.5)
A185T (p.Ala185Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A185T (p.Ala185Thr) variant details
- p.Ala185Thr
- rs192113333
- ClinGen CA019331
- cosmic curated COSV61135
- ClinVar RCV000058790
- Benign/Likely benign
- not specified; not provided; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.82
- MetaSVM 0.41
- CADD 23.70
- ClinVar: Benign/Likely benign (not specified; not provided; Brugada syndrome 1)
- EBI: Benign (in BRGDA1)
- UniProt: Benign (in BRGDA1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.006)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 97.4
- 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)