R86W (p.Arg86Trp) variant of MYLK (Q15746)
R86W (p.Arg86Trp) 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.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- rs368822172
- ClinGen CA069008
- cosmic curated COSV10740
- ClinVar RCV000311628
- Conflicting interpretations
- not specified; not provided; Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.32
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Aortic aneurysm, familial thoracic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- 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)