N104S (p.Asn104Ser) variant of MYH7 (Myosin-7)
N104S (p.Asn104Ser) 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 0.78 / 1. The record also includes population frequency data and structural context.
N104S (p.Asn104Ser) variant details
- p.Asn104Ser
- rs1893015705
- ClinGen CA389053128
- ClinVar RCV001306601
- Ensembl rs1893015705
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.83
- MetaSVM 0.89
- CADD 27.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available