A185T (p.Ala185Thr) variant of SCN5A (Q14524)
A185T (p.Ala185Thr) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiac arrhythmia; not provided; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A185T (p.Ala185Thr) variant details
- p.Ala185Thr
- rs192113333
- ClinGen CA019331
- cosmic curated COSV61135
- ClinVar RCV000058790
- Benign/Likely benign
- Cardiac arrhythmia; not provided; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.53
- CADD 18.00
- PolyPhen-2 0.30
- SIFT 0.15
- ClinVar: Benign/Likely benign (Cardiac arrhythmia; 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
- 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)