G84S (p.Gly84Ser) variant of MYLK (Q15746)
G84S (p.Gly84Ser) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G84S (p.Gly84Ser) variant details
- p.Gly84Ser
- rs568619953
- ClinGen CA068919
- cosmic curated COSV60604
- ClinVar RCV001170680
- Conflicting interpretations
- Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.09
- CADD 7.08
- PolyPhen-2 0.05
- SIFT 0.81
- ClinVar: Conflicting classifications of pathogenicity (Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-inte)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)