P90L (p.Pro90Leu) variant of ATXN1 (Ataxin-1)
P90L (p.Pro90Leu) in ATXN1 (Ataxin-1) is a missense change. 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.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- 1000Genomes rs540296376
- ExAC rs540296376
- gnomAD rs540296376
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.17
- AlphaMissense 0.14
- MetaLR 0.14
- MetaSVM -0.71
- CADD 22.60
- PolyPhen-2 0.81
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available