K12E (p.Lys12Glu) variant of MYH11 (Myosin-11)
K12E (p.Lys12Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- rs2043957775
- ClinGen CA395199081
- ClinVar RCV003340757
- Ensembl rs2043957775
- Uncertain significance
- Aortic aneurysm, familial thoracic 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.47
- CADD 23.90
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)