R40Q (p.Arg40Gln) variant of MYLK (Q15746)
R40Q (p.Arg40Gln) 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; Connective tissue disorder; Familial thoracic aortic aneurysm and. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs767877538
- ClinGen CA066811
- ClinVar RCV000415627
- ClinVar RCV000659931
- Uncertain significance
- not provided; Connective tissue disorder; Familial thoracic aortic aneurysm and
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.17
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Connective tissue disorder; Familial thoracic aort)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.14)
- 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)