V96I (p.Val96Ile) variant of ATXN1 (Ataxin-1)
V96I (p.Val96Ile) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V96I (p.Val96Ile) variant details
- p.Val96Ile
- TOPMed rs1760886290
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.96
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available