V53I (p.Val53Ile) variant of VPS13C (Q709C8)
V53I (p.Val53Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V53I (p.Val53Ile) variant details
- p.Val53Ile
- TOPMed rs893617553
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.52
- MetaSVM 0.03
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available