P20L (p.Pro20Leu) variant of ATXN1 (Ataxin-1)
P20L (p.Pro20Leu) 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.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD rs1366944802
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.13
- AlphaMissense 0.15
- MetaLR 0.51
- MetaSVM 0.07
- CADD 19.80
- PolyPhen-2 1.00
- Population evidence available
- Structural context available