L148I (p.Leu148Ile) variant of ATXN3 (Ataxin-3)
L148I (p.Leu148Ile) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
L148I (p.Leu148Ile) variant details
- p.Leu148Ile
- gnomAD rs1164718952
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 25.80
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)