P89T (p.Pro89Thr) variant of ATXN1 (Ataxin-1)
P89T (p.Pro89Thr) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P89T (p.Pro89Thr) variant details
- p.Pro89Thr
- cosmic curated COSV55230
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.13
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.31
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available