N80H (p.Asn80His) variant of MYH7 (Myosin-7)
N80H (p.Asn80His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
N80H (p.Asn80His) variant details
- p.Asn80His
- rs2502320327
- ClinGen CA389053400
- ClinVar RCV002933858
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.02
- CADD 28.80
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available