A32G (p.Ala32Gly) variant of MYH11 (Myosin-11)
A32G (p.Ala32Gly) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Familial thoracic aortic aneurysm and aortic dissection; Aortic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A32G (p.Ala32Gly) variant details
- p.Ala32Gly
- rs2043954639
- ClinGen CA395198704
- ClinVar RCV003479718
- ClinVar RCV003779192
- Uncertain significance
- not specified; Familial thoracic aortic aneurysm and aortic dissection; Aortic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.16
- MetaLR 0.52
- MetaSVM -0.19
- PolyPhen-2 0.14
- SIFT 0.10
- MutPred 0.37
- ClinVar: Uncertain significance (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)