E47Q (p.Glu47Gln) variant of SIX1 (Homeobox protein SIX1)
E47Q (p.Glu47Gln) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Branchiootic syndrome 3; Autosomal dominant nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- rs1223102250
- ClinGen CA389910959
- ClinVar RCV003794203
- ClinVar RCV006368611
- Uncertain significance
- Inborn genetic diseases; Branchiootic syndrome 3; Autosomal dominant nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (Inborn genetic diseases; Branchiootic syndrome 3; Autosomal domi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.458
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)