I31M (p.Ile31Met) variant of VPS13C (Q709C8)
I31M (p.Ile31Met) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I31M (p.Ile31Met) variant details
- p.Ile31Met
- TOPMed rs1205988429
- gnomAD rs1205988429
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.65
- MetaSVM 0.19
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available