G70R (p.Gly70Arg) variant of MYLK (Q15746)
G70R (p.Gly70Arg) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- rs779602599
- ClinGen CA068367
- ClinVar RCV000694950
- ClinVar RCV001569306
- Uncertain significance
- not specified; Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intes
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.41
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Aortic aneurysm, familial thoracic 7; Megacystis-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KARITIANA population (allele frequency 0.05)
- 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)