P47L (p.Pro47Leu) variant of ATXN1 (Ataxin-1)
P47L (p.Pro47Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- cosmic curated COSV55211
- ExAC rs775100540
- TOPMed rs775100540
- gnomAD rs775100540
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.12
- AlphaMissense 0.45
- MetaLR 0.14
- MetaSVM -0.80
- CADD 22.80
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available