K5N (p.Lys5Asn) variant of MYLK (Q15746)
K5N (p.Lys5Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- rs777696799
- ClinGen CA067577
- ClinVar RCV001237981
- ClinVar RCV001751470
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.12
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)