P54R (p.Pro54Arg) variant of VPS13C (Q709C8)
P54R (p.Pro54Arg) in VPS13C (Q709C8) is a missense change. 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.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- TOPMed rs762410291
- gnomAD rs762410291
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.93
- MetaSVM 1.09
- CADD 29.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available