R110W (p.Arg110Trp) variant of SIX1 (Homeobox protein SIX1)
R110W (p.Arg110Trp) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R110W (p.Arg110Trp) variant details
- p.Arg110Trp
- rs80356459
- ClinGen CA340772
- NCI-TCGA Cosmic COSV5595
- NCI-TCGA Cosmic COSV5596
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 23; Branchiootic sy)
- EBI: Pathogenic (in BOS3)
- UniProt: Pathogenic (in BOS3)
- Structural context available
- Cited in: SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. (PMID 15141091)
- Cited in: SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. (PMID 18330911)