V125L (p.Val125Leu) variant of SCN5A (Q14524)
V125L (p.Val125Leu) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Cardiac arrhythmia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V125L (p.Val125Leu) variant details
- p.Val125Leu
- rs199473059
- ClinGen CA352156920
- ClinVar RCV001843238
- UniProt VAR 068326
- Benign/Likely benign
- Cardiovascular phenotype; Cardiac arrhythmia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.60
- CADD 23.30
- PolyPhen-2 0.22
- SIFT 0.03
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Cardiac arrhythmia; not specified)
- EBI: Pathogenic (in LQT3)
- UniProt: Pathogenic (in LQT3)
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)