V95I (p.Val95Ile) variant of SCN5A (Q14524)
V95I (p.Val95Ile) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V95I (p.Val95Ile) variant details
- p.Val95Ile
- rs199473054
- ClinGen CA016556
- cosmic curated COSV60067
- ClinVar RCV000058531
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; not specified)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. (PMID 17081365)
- Cited in: Brugada Syndrome. (PMID 20301690)