A123V (p.Ala123Val) variant of SCN5A (Q14524)
A123V (p.Ala123Val) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- rs765699394
- ClinGen CA062209
- cosmic curated COSV60067
- ClinVar RCV001731897
- Uncertain significance
- not specified; Cardiovascular phenotype; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.24
- AlphaMissense 0.08
- MetaLR 0.68
- MetaSVM 0.10
- CADD 18.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype; Brugada syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00078)
- 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)