S35T (p.Ser35Thr) variant of ATXN3 (Ataxin-3)
S35T (p.Ser35Thr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S35T (p.Ser35Thr) variant details
- p.Ser35Thr
- gnomAD rs1428811774
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available