W122R (p.Trp122Arg) variant of SIX1 (Homeobox protein SIX1)
W122R (p.Trp122Arg) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Branchiootic syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
W122R (p.Trp122Arg) variant details
- p.Trp122Arg
- rs121909770
- ClinGen CA254384
- ClinVar RCV000008809
- UniProt VAR 064953
- Pathogenic
- Branchiootic syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 1.06
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Branchiootic syndrome 3)
- EBI: Pathogenic (in BOS3)
- UniProt: Pathogenic (in BOS3)
- Structural context available
- Cited in: Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining… (PMID 17637804)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)