S96G (p.Ser96Gly) variant of ATXN3 (Ataxin-3)
S96G (p.Ser96Gly) 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 0.43 / 1.
S96G (p.Ser96Gly) variant details
- p.Ser96Gly
- rs965403034
- NCI-TCGA Cosmic COSV6149
- cosmic curated COSV61494
- TOPMed rs965403034
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.72
- MetaLR 0.28
- MetaSVM -0.47
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.51
- UniProt: Variant assessed as somatic; moderate impact.