R64C (p.Arg64Cys) variant of SIX1 (Homeobox protein SIX1)
R64C (p.Arg64Cys) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant nonsyndromic hearing loss 23; Branch. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- NCI-TCGA TCGA novel
- TOPMed rs1895008493
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant nonsyndromic hearing loss 23; Branch
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- CADD 32.00
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant nonsyndromic hearing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available