Y120H (p.Tyr120His) variant of ATXN1 (Ataxin-1)
Y120H (p.Tyr120His) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y120H (p.Tyr120His) variant details
- p.Tyr120His
- rs763470838
- ExAC rs763470838
- gnomAD rs763470838
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.73
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available