G76R (p.Gly76Arg) variant of MYLK (Q15746)
G76R (p.Gly76Arg) 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; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G76R (p.Gly76Arg) variant details
- p.Gly76Arg
- rs368413008
- ClinGen CA068665
- cosmic curated COSV60619
- ClinVar RCV000548227
- Conflicting interpretations
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.26
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- 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)