K51E (p.Lys51Glu) variant of MYLK (Q15746)
K51E (p.Lys51Glu) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- rs759096954
- ClinGen CA067438
- ClinVar RCV001056926
- ClinVar RCV004031795
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- CADD 24.10
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)