E125K (p.Glu125Lys) variant of SIX1 (Homeobox protein SIX1)
E125K (p.Glu125Lys) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E125K (p.Glu125Lys) variant details
- p.Glu125Lys
- rs797044960
- ClinGen CA275962
- ClinVar RCV000190433
- ClinVar RCV001852527
- Pathogenic/Likely pathogenic
- Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.73
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. (PMID 21700001)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)