R86Q (p.Arg86Gln) variant of MYLK (Q15746)
R86Q (p.Arg86Gln) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Aortic aneurysm, familial thoracic 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs138265409
- ClinGen CA069022
- cosmic curated COSV60616
- ClinVar RCV000554596
- Conflicting interpretations
- not specified; not provided; Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.16
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Aortic aneurysm, familial thoracic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)