I130L (p.Ile130Leu) variant of ATXN1 (Ataxin-1)
I130L (p.Ile130Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
I130L (p.Ile130Leu) variant details
- p.Ile130Leu
- ESP rs147449173
- ExAC rs147449173
- TOPMed rs147449173
- gnomAD rs147449173
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available