V7I (p.Val7Ile) variant of VPS13C (Q709C8)
V7I (p.Val7Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- TOPMed rs1263199894
- gnomAD rs1263199894
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.71
- MetaSVM 0.54
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available