L31I (p.Leu31Ile) variant of ATXN2 (Ataxin-2)
L31I (p.Leu31Ile) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
L31I (p.Leu31Ile) variant details
- p.Leu31Ile
- Ensembl rs1885153998
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)