P114L (p.Pro114Leu) variant of ATXN1 (Ataxin-1)
P114L (p.Pro114Leu) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P114L (p.Pro114Leu) variant details
- p.Pro114Leu
- TOPMed rs1397068418
- gnomAD rs1397068418
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.21
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.06
- CADD 23.20
- PolyPhen-2 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available