A63T (p.Ala63Thr) variant of ATXN1 (Ataxin-1)
A63T (p.Ala63Thr) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- cosmic curated COSV55231
- gnomAD rs1195602589
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.10
- CADD 12.90
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available