P54S (p.Pro54Ser) variant of VPS13C (Q709C8)
P54S (p.Pro54Ser) 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 0.90 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- rs1313899885
- ClinGen CA392675872
- ClinVar RCV002824446
- TOPMed rs1313899885
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.91
- MetaSVM 1.05
- CADD 29.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available