T130I (p.Thr130Ile) variant of VPS13C (Q709C8)
T130I (p.Thr130Ile) in VPS13C (Q709C8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T130I (p.Thr130Ile) variant details
- p.Thr130Ile
- Ensembl rs2047709149
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.09
- CADD 19.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available