V106L (p.Val106Leu) variant of SIX1 (Homeobox protein SIX1)
V106L (p.Val106Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
V106L (p.Val106Leu) variant details
- p.Val106Leu
- rs2140241235
- ClinGen CA389910570
- ClinVar RCV001794854
- Ensembl rs2140241235
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss
- 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 nonsyndromic hearing loss)
- EBI: Likely pathogenic (in BOS3)
- UniProt: Likely pathogenic (in BOS3)
- Structural context available
- Cited in: American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of… (PMID 24651602)