P7L (p.Pro7Leu) variant of SCN5A (Nav1.5)
P7L (p.Pro7Leu) 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 0.63 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs780365654
- ClinGen CA352159585
- cosmic curated COSV10736
- ClinVar RCV002308998
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.80
- MetaSVM 0.74
- CADD 22.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available