I298T (p.Ile298Thr) variant of VPS35 (Q96QK1)
I298T (p.Ile298Thr) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
I298T (p.Ile298Thr) variant details
- p.Ile298Thr
- rs2143008108
- ClinGen CA395810785
- ClinVar RCV002052343
- Ensembl rs2143008108
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.91
- MetaLR 0.31
- MetaSVM -0.36
- PolyPhen-2 0.79
- SIFT 0.02
- MutPred 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available