T94M (p.Thr94Met) variant of MYH11 (Myosin-11)
T94M (p.Thr94Met) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T94M (p.Thr94Met) variant details
- p.Thr94Met
- rs794728681
- ClinGen CA306697
- cosmic curated COSV10517
- ClinVar RCV000182567
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- AlphaMissense 0.74
- MetaLR 0.84
- MetaSVM 0.83
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)