S161F (p.Ser161Phe) variant of ATXN3 (Ataxin-3)
S161F (p.Ser161Phe) in ATXN3 (Ataxin-3) 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 0.79 / 1. The record also includes population frequency data.
S161F (p.Ser161Phe) variant details
- p.Ser161Phe
- rs200118135
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- 1000Genomes rs200118135
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 29.00
- PolyPhen-2 0.65
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available