V87L (p.Val87Leu) variant of MYH11 (Myosin-11)
V87L (p.Val87Leu) 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; not provided; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
V87L (p.Val87Leu) variant details
- p.Val87Leu
- rs1488968785
- ClinGen CA395198324
- ClinVar RCV001932865
- ClinVar RCV004822954
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.66
- MetaLR 0.70
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- 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)