M68I (p.Met68Ile) variant of VPS35 (Q96QK1)
M68I (p.Met68Ile) 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 0.38 / 1. The record also includes structural context.
M68I (p.Met68Ile) variant details
- p.Met68Ile
- rs1131691531
- ClinGen CA395815020
- ClinVar RCV000493157
- Ensembl rs1131691531
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.96
- MetaLR 0.17
- MetaSVM -0.74
- PolyPhen-2 0.86
- SIFT 0.06
- MutPred 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available