H151Y (p.His151Tyr) variant of SCN5A (Nav1.5)
H151Y (p.His151Tyr) 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 0.52 / 1. The record also includes population frequency data and structural context.
H151Y (p.His151Tyr) variant details
- p.His151Tyr
- rs2062340321
- ClinGen CA352154617
- ClinVar RCV003700625
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.78
- MetaSVM 0.23
- CADD 22.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available