M113L (p.Met113Leu) variant of MYH7 (Myosin-7)
M113L (p.Met113Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
M113L (p.Met113Leu) variant details
- p.Met113Leu
- rs1893014420
- ClinGen CA389053045
- ClinVar RCV002303399
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.80
- MetaSVM 0.64
- CADD 25.20
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available