S133F (p.Ser133Phe) variant of ATXN1 (Ataxin-1)
S133F (p.Ser133Phe) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
S133F (p.Ser133Phe) variant details
- p.Ser133Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.26
- CADD 26.60
- PolyPhen-2 0.64
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available