S72P (p.Ser72Pro) variant of ATXN2 (Ataxin-2)
S72P (p.Ser72Pro) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S72P (p.Ser72Pro) variant details
- p.Ser72Pro
- cosmic curated COSV10530
- Ensembl rs1592946782
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 17.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)