N4I (p.Asn4Ile) variant of ATXN1 (Ataxin-1)
N4I (p.Asn4Ile) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N4I (p.Asn4Ile) variant details
- p.Asn4Ile
- ExAC rs748241978
- TOPMed rs748241978
- gnomAD rs748241978
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.17
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available