P119L (p.Pro119Leu) variant of SCN5A (Q14524)
P119L (p.Pro119Leu) in SCN5A (Q14524) 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 0.70 / 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 0.704
- REVEL 0.68
- CADD 23.00
- PolyPhen-2 0.13
- SIFT 0.53
- 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