A7T (p.Ala7Thr) variant of MYH7 (Myosin-7)
A7T (p.Ala7Thr) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs2502322986
- ClinGen CA389054197
- ClinVar RCV002417094
- ClinVar RCV004808329
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.23
- ESM-1b 0.94
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM -0.11
- CADD 18.70
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)