V106M (p.Val106Met) variant of SIX1 (Homeobox protein SIX1)
V106M (p.Val106Met) 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 SIX1-related disorders; Branchiootic syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
V106M (p.Val106Met) variant details
- p.Val106Met
- rs2140241235
- ClinGen CA389910572
- ClinVar RCV001568419
- Ensembl rs2140241235
- Likely pathogenic
- Autosomal dominant SIX1-related disorders; Branchiootic syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Autosomal dominant SIX1-related disorders; Branchiootic syndrome)
- EBI: Likely pathogenic (in BOS3)
- UniProt: Likely pathogenic (in BOS3)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)