P731R (p.Pro731Arg) variant of MYH7 (Myosin-7)
P731R (p.Pro731Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital myopathy with fiber type disproportion. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
P731R (p.Pro731Arg) variant details
- p.Pro731Arg
- rs1247313340
- ClinGen CA389048940
- ClinVar RCV001198111
- Ensembl rs1247313340
- Likely pathogenic
- Congenital myopathy with fiber type disproportion
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.93
- MetaLR 0.84
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Congenital myopathy with fiber type disproportion)
- EBI: Likely pathogenic (in CMH1)
- UniProt: Likely pathogenic (in CMH1)
- Structural context available