K68N (p.Lys68Asn) variant of MYH11 (Myosin-11)
K68N (p.Lys68Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K68N (p.Lys68Asn) variant details
- p.Lys68Asn
- rs111777997
- ClinGen CA7923110
- ClinVar RCV001181793
- ClinVar RCV004695128
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.56
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)