H59Y (p.His59Tyr) variant of SIX1 (Homeobox protein SIX1)
H59Y (p.His59Tyr) 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 Autosomal dominant nonsyndromic hearing loss 23. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
H59Y (p.His59Tyr) variant details
- p.His59Tyr
- gnomAD rs1371905806
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 23
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 25.20
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 23)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available