R110L (p.Arg110Leu) variant of SIX1 (Homeobox protein SIX1)
R110L (p.Arg110Leu) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 23; 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.
R110L (p.Arg110Leu) variant details
- p.Arg110Leu
- rs1064794308
- ClinGen CA389910544
- ClinVar RCV002027546
- ClinVar RCV005868544
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 23; 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: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 23; Branchiootic sy)
- EBI: Pathogenic (in BOS3)
- UniProt: Pathogenic (in BOS3)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)