T68A (p.Thr68Ala) variant of MYH7 (Myosin-7)
T68A (p.Thr68Ala) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T68A (p.Thr68Ala) variant details
- p.Thr68Ala
- rs2502320501
- ClinGen CA389053537
- ClinVar RCV003532736
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.53
- ESM-1b 0.83
- AlphaMissense 0.10
- MetaLR 0.61
- MetaSVM 0.20
- CADD 22.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- 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)