S74L (p.Ser74Leu) variant of ATXN2 (Ataxin-2)
S74L (p.Ser74Leu) in ATXN2 (Ataxin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S74L (p.Ser74Leu) variant details
- p.Ser74Leu
- TOPMed rs1008190781
- gnomAD rs1008190781
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 21.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available