A1603P (p.Ala1603Pro) variant of MYH7 (Myosin-7)
A1603P (p.Ala1603Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myosin storage myopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
A1603P (p.Ala1603Pro) variant details
- p.Ala1603Pro
- rs730880809
- ClinGen CA347265
- ClinVar RCV000551132
- ClinVar RCV004586591
- Likely pathogenic
- Myosin storage myopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.21
- MetaLR 0.48
- MetaSVM 0.03
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.24
- ClinVar: Likely pathogenic (Myosin storage myopathy; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available