P89L (p.Pro89Leu) variant of ATXN2 (Ataxin-2)
P89L (p.Pro89Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- cosmic curated COSV66485
- gnomAD rs1318594762
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 19.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available