K18R (p.Lys18Arg) variant of MYH11 (Myosin-11)
K18R (p.Lys18Arg) 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 provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- rs756777282
- ClinGen CA7923128
- ClinVar RCV000474049
- ClinVar RCV001179119
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.28
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00025)
- 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)