S3P (p.Ser3Pro) variant of ATXN2 (Ataxin-2)
S3P (p.Ser3Pro) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- Ensembl rs2135865416
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 13.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)