A107T (p.Ala107Thr) variant of ATXN1 (Ataxin-1)
A107T (p.Ala107Thr) 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.
A107T (p.Ala107Thr) variant details
- p.Ala107Thr
- ExAC rs758412921
- TOPMed rs758412921
- gnomAD rs758412921
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.18
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available