Q78P (p.Gln78Pro) variant of MYH7 (Myosin-7)
Q78P (p.Gln78Pro) 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 0.41 / 1. The record also includes structural context.
Q78P (p.Gln78Pro) variant details
- p.Gln78Pro
- rs1893018661
- ClinGen CA389053424
- ClinVar RCV003750057
- TOPMed rs1893018661
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.33
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available