Y106C (p.Tyr106Cys) variant of ATXN1 (Ataxin-1)
Y106C (p.Tyr106Cys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y106C (p.Tyr106Cys) variant details
- p.Tyr106Cys
- ExAC rs746951702
- gnomAD rs746951702
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.26
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -0.96
- CADD 25.70
- PolyPhen-2 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available