T130R (p.Thr130Arg) variant of VPS13C (Q709C8)
T130R (p.Thr130Arg) in VPS13C (Q709C8) 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 0.15 / 1. The record also includes structural context.
T130R (p.Thr130Arg) variant details
- p.Thr130Arg
- rs2047709149
- ClinGen CA392692646
- ClinVar RCV002851566
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.09
- CADD 19.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available