A39T (p.Ala39Thr) variant of SIX1 (Homeobox protein SIX1)
A39T (p.Ala39Thr) 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 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD rs1431824329
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 23
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.23
- MetaLR 0.43
- MetaSVM -0.42
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.24
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 23)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.483