N80K (p.Asn80Lys) variant of MYH7 (Myosin-7)
N80K (p.Asn80Lys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
N80K (p.Asn80Lys) variant details
- p.Asn80Lys
- rs200493975
- ClinGen CA389053390
- ClinVar RCV000617460
- ClinVar RCV003748262
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.06
- CADD 25.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Structural context available