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 0.52 / 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 0.517
- REVEL 0.53
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)