M113V (p.Met113Val) variant of MYH7 (Myosin-7)
M113V (p.Met113Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
M113V (p.Met113Val) variant details
- p.Met113Val
- rs1893014420
- ClinGen CA389053044
- ClinVar RCV001183174
- Ensembl rs1893014420
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.80
- MetaSVM 0.64
- CADD 25.20
- ClinVar: Uncertain significance (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)