V17E (p.Val17Glu) variant of SIX1 (Homeobox protein SIX1)
V17E (p.Val17Glu) in SIX1 (Homeobox protein SIX1) is a missense change. The available record places it in the context of Branchiootic syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- rs397515562
- ClinGen CA345039
- ClinVar RCV002477184
- UniProt VAR 064948
- not provided
- Branchiootic syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: not provided (Branchiootic syndrome 3)
- EBI: Pathogenic (in BOS3)
- UniProt: Pathogenic (in BOS3)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.476
- Cited in: SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. (PMID 18330911)
- Cited in: Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. (PMID 19497856)