R34K (p.Arg34Lys) variant of MYH11 (Myosin-11)
R34K (p.Arg34Lys) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
R34K (p.Arg34Lys) variant details
- p.Arg34Lys
- rs199654191
- ClinGen CA395198677
- ClinVar RCV001804661
- ExAC rs199654191
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.61
- MetaLR 0.50
- MetaSVM -0.38
- PolyPhen-2 0.09
- SIFT 0.00
- MutPred 0.54
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely benign
- UniProt: Likely benign
- 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)