N444S (p.Asn444Ser) variant of MYH7 (Myosin-7)
N444S (p.Asn444Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
N444S (p.Asn444Ser) variant details
- p.Asn444Ser
- rs730880159
- ClinGen CA010585
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000158797
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Primary familial hypertr)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)