I130S (p.Ile130Ser) variant of ATXN1 (Ataxin-1)
I130S (p.Ile130Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I130S (p.Ile130Ser) variant details
- p.Ile130Ser
- ExAC rs746993452
- TOPMed rs746993452
- gnomAD rs746993452
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.32
- CADD 26.70
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available