K54R (p.Lys54Arg) variant of MYH11 (Myosin-11)
K54R (p.Lys54Arg) 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; Megacystis-microcolon-intestinal hypoperis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K54R (p.Lys54Arg) variant details
- p.Lys54Arg
- rs1015353331
- ClinGen CA278998948
- ClinVar RCV000772796
- ClinVar RCV001280976
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperis
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.18
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-inte)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)