A21T (p.Ala21Thr) variant of ATXN1 (Ataxin-1)
A21T (p.Ala21Thr) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- cosmic curated COSV55212
- ExAC rs774113311
- TOPMed rs774113311
- gnomAD rs774113311
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.21
- AlphaMissense 0.32
- CADD 23.60
- PolyPhen-2 0.64
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available