S85F (p.Ser85Phe) variant of MYH11 (Myosin-11)
S85F (p.Ser85Phe) 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; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
S85F (p.Ser85Phe) variant details
- p.Ser85Phe
- rs148687580
- ClinGen CA278998942
- cosmic curated COSV55571
- ClinVar RCV001176690
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.52
- MetaLR 0.54
- MetaSVM 0.16
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.38
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Familial thoracic aortic a)
- 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)