R57W (p.Arg57Trp) variant of MYLK (Q15746)
R57W (p.Arg57Trp) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- rs776636237
- ClinGen CA067768
- NCI-TCGA Cosmic COSV6061
- cosmic curated COSV60614
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.41
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)