R55W (p.Arg55Trp) variant of MYLK (Q15746)
R55W (p.Arg55Trp) 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; Aortic aneurysm, familial thoracic 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R55W (p.Arg55Trp) variant details
- p.Arg55Trp
- rs374679897
- ClinGen CA067639
- cosmic curated COSV60606
- ClinVar RCV001553396
- Uncertain significance
- not provided; Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.55
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Aortic aneurysm, familial thoracic 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)