E98K (p.Glu98Lys) variant of MYH11 (Myosin-11)
E98K (p.Glu98Lys) 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; not provided; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- rs773587055
- ClinGen CA278998941
- NCI-TCGA Cosmic COSV5555
- cosmic curated COSV55558
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.88
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)