L1264P (p.Leu1264Pro) variant of MYH11 (Myosin-11)
L1264P (p.Leu1264Pro) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L1264P (p.Leu1264Pro) variant details
- p.Leu1264Pro
- rs201831933
- ClinGen CA270776
- ClinVar RCV000015194
- ClinVar RCV000144438
- Uncertain significance
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.67
- PolyPhen-2 0.98
- SIFT 0.03
- MutPred 0.93
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. (PMID 17666408)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)