K28Q (p.Lys28Gln) variant of VPS13C (Q709C8)
K28Q (p.Lys28Gln) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
K28Q (p.Lys28Gln) variant details
- p.Lys28Gln
- TOPMed rs2048959303
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.65
- MetaSVM 0.39
- CADD 26.30
- Structural context available