S88C (p.Ser88Cys) variant of ATXN1 (Ataxin-1)
S88C (p.Ser88Cys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S88C (p.Ser88Cys) variant details
- p.Ser88Cys
- TOPMed rs1760888355
- gnomAD rs1760888355
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.27
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.06
- CADD 26.10
- PolyPhen-2 0.53
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available