L212P (p.Leu212Pro) variant of SCN5A (Nav1.5)
L212P (p.Leu212Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L212P (p.Leu212Pro) variant details
- p.Leu212Pro
- rs199473070
- UniProt VAR 055162
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in LQT3)
- UniProt: Pathogenic (in LQT3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. (PMID 10377081)