I43M (p.Ile43Met) variant of VPS13C (Q709C8)
I43M (p.Ile43Met) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I43M (p.Ile43Met) variant details
- p.Ile43Met
- gnomAD rs1316616403
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.65
- MetaSVM 0.30
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 5.9e-06)
- Structural context available