I75T (p.Ile75Thr) variant of ATXN1 (Ataxin-1)
I75T (p.Ile75Thr) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I75T (p.Ile75Thr) variant details
- p.Ile75Thr
- ExAC rs749499641
- gnomAD rs749499641
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.16
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available