S40L (p.Ser40Leu) variant of MYH11 (Myosin-11)
S40L (p.Ser40Leu) 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; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs775927183
- ClinGen CA7923116
- ClinVar RCV000498548
- ClinVar RCV001188968
- Uncertain significance
- not specified; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.84
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Aortic aneurysm, familial thoracic 4; Visceral my)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)