Q63R (p.Gln63Arg) variant of MYLK (Q15746)
Q63R (p.Gln63Arg) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- rs778259023
- ClinGen CA068044
- ClinVar RCV000276037
- ClinVar RCV001590997
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.12
- CADD 24.70
- PolyPhen-2 0.47
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00016)
- 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)