R110Q (p.Arg110Gln) variant of SIX1 (Homeobox protein SIX1)
R110Q (p.Arg110Gln) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Branchiootic syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- rs1064794308
- ClinGen CA16619881
- ClinVar RCV000482613
- ClinVar RCV003223408
- Pathogenic
- not provided; Branchiootic syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (not provided; Branchiootic syndrome 3)
- EBI: Pathogenic (in BOS3)
- UniProt: Pathogenic (in BOS3)
- Structural context available
- Cited in: SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. (PMID 18330911)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)