M92T (p.Met92Thr) variant of MYH7 (Myosin-7)
M92T (p.Met92Thr) 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 0.60 / 1. The record also includes published literature and structural context.
M92T (p.Met92Thr) variant details
- p.Met92Thr
- rs2138685614
- ClinGen CA389053264
- ClinVar RCV001525000
- Ensembl rs2138685614
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.91
- MetaLR 0.69
- MetaSVM 0.31
- PolyPhen-2 0.07
- SIFT 0.00
- EVE 0.45
- 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)