Q129K (p.Gln129Lys) variant of ATXN3 (Ataxin-3)
Q129K (p.Gln129Lys) in ATXN3 (Ataxin-3) 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 0.75 / 1. The record also includes population frequency data.
Q129K (p.Gln129Lys) variant details
- p.Gln129Lys
- TOPMed rs1431792437
- gnomAD rs1431792437
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 26.10
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)