P70H (p.Pro70His) variant of ATXN2 (Ataxin-2)
P70H (p.Pro70His) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
P70H (p.Pro70His) variant details
- p.Pro70His
- gnomAD rs1477221359
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 23.50
- Most common in the East Asian population (allele frequency 2.5e-05)