A121T (p.Ala121Thr) variant of ATXN1 (Ataxin-1)
A121T (p.Ala121Thr) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A121T (p.Ala121Thr) variant details
- p.Ala121Thr
- rs770179993
- cosmic curated COSV10807
- ExAC rs770179993
- gnomAD rs770179993
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.16
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.86
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available