S74P (p.Ser74Pro) variant of ATXN2 (Ataxin-2)
S74P (p.Ser74Pro) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S74P (p.Ser74Pro) variant details
- p.Ser74Pro
- Ensembl rs1592946764
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 25.00
- Population evidence available
- Structural context available