S12P (p.Ser12Pro) variant of ATXN3 (Ataxin-3)
S12P (p.Ser12Pro) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD rs1222665226
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 28.70
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)