N97K (p.Asn97Lys) variant of MYH11 (Myosin-11)
N97K (p.Asn97Lys) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N97K (p.Asn97Lys) variant details
- p.Asn97Lys
- rs113363750
- ClinGen CA306631
- ClinVar RCV000182541
- ClinVar RCV001852319
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)