Y129C (p.Tyr129Cys) variant of SIX1 (Homeobox protein SIX1)
Y129C (p.Tyr129Cys) 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; Branchio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y129C (p.Tyr129Cys) variant details
- p.Tyr129Cys
- rs104894478
- ClinGen CA254381
- ClinVar RCV000008806
- ClinVar RCV000413341
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome; Branchio
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.01
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 23; Branchiootic sy)
- EBI: Pathogenic (in BOS3)
- UniProt: Pathogenic (in BOS3)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. (PMID 12843324)
- Cited in: SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. (PMID 15141091)