P119L (p.Pro119Leu) variant of SCN5A (Nav1.5)
P119L (p.Pro119Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P119L (p.Pro119Leu) variant details
- p.Pro119Leu
- rs758695743
- ClinGen CA062052
- cosmic curated COSV10736
- ClinVar RCV003770622
- Uncertain significance
- not provided; Cardiovascular phenotype; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.90
- MetaSVM 0.80
- CADD 24.90
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available