T22P (p.Thr22Pro) variant of ATXN1 (Ataxin-1)
T22P (p.Thr22Pro) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T22P (p.Thr22Pro) variant details
- p.Thr22Pro
- ExAC rs748739614
- gnomAD rs748739614
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.85
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available