L96Q (p.Leu96Gln) variant of MYH7 (Myosin-7)
L96Q (p.Leu96Gln) 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 0.93 / 1. The record also includes structural context.
L96Q (p.Leu96Gln) variant details
- p.Leu96Gln
- rs1893016563
- ClinGen CA389053223
- ClinVar RCV001206755
- ClinVar RCV005372586
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.99
- CADD 32.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available