K105Q (p.Lys105Gln) variant of VPS13C (Q709C8)
K105Q (p.Lys105Gln) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
K105Q (p.Lys105Gln) variant details
- p.Lys105Gln
- TOPMed rs1460613285
- gnomAD rs1460613285
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.64
- MetaSVM 0.47
- CADD 25.10
- Structural context available