R108L (p.Arg108Leu) variant of MYH7 (Myosin-7)
R108L (p.Arg108Leu) 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 1; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R108L (p.Arg108Leu) variant details
- p.Arg108Leu
- rs730880832
- ClinGen CA389053083
- ClinVar RCV004010104
- ClinVar RCV004787092
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.14
- CADD 26.20
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)