R1275L (p.Arg1275Leu) variant of MYH11 (Myosin-11)
R1275L (p.Arg1275Leu) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic aneurysm, familial thoracic 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R1275L (p.Arg1275Leu) variant details
- p.Arg1275Leu
- rs267606901
- ClinGen CA257130
- ClinVar RCV000015194
- ClinVar RCV003629099
- Pathogenic
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.73
- SIFT 0.11
- ClinVar: Pathogenic (Aortic aneurysm, familial thoracic 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)