R39Q (p.Arg39Gln) variant of ATXN1 (Ataxin-1)
R39Q (p.Arg39Gln) 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 0.31 / 1. The record also includes population frequency data and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs764254890
- NCI-TCGA Cosmic COSV5522
- cosmic curated COSV55221
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available