K64I (p.Lys64Ile) variant of VPS13C (Q709C8)
K64I (p.Lys64Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
K64I (p.Lys64Ile) variant details
- p.Lys64Ile
- TOPMed rs903266148
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.73
- MetaSVM 0.61
- CADD 27.00
- Structural context available