E31G (p.Glu31Gly) variant of MYLK (Q15746)
E31G (p.Glu31Gly) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- rs2064878239
- ClinGen CA354236632
- ClinVar RCV001759211
- ClinVar RCV001868710
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.33
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-inte)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)