P89L (p.Pro89Leu) variant of ATXN1 (Ataxin-1)
P89L (p.Pro89Leu) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.38 / 1. The record also includes population frequency data and structural context.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- TOPMed rs1191399862
- gnomAD rs1191399862
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.18
- AlphaMissense 0.16
- MetaLR 0.06
- MetaSVM -1.02
- CADD 22.40
- PolyPhen-2 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available