P54T (p.Pro54Thr) variant of VPS13C (Q709C8)
P54T (p.Pro54Thr) 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 0.90 / 1. The record also includes population frequency data and structural context.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- TOPMed rs1313899885
- gnomAD rs1313899885
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.93
- MetaSVM 1.09
- CADD 28.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available