L725P (p.Leu725Pro) variant of MYH7 (Myosin-7)
L725P (p.Leu725Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
L725P (p.Leu725Pro) variant details
- p.Leu725Pro
- rs606231335
- ClinGen CA011873
- ClinVar RCV000148961
- Ensembl rs606231335
- Likely pathogenic
- Familial cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.90
- PolyPhen-2 0.02
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Familial cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available