K97Q (p.Lys97Gln) variant of VPS13C (Q709C8)
K97Q (p.Lys97Gln) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
K97Q (p.Lys97Gln) variant details
- p.Lys97Gln
- ExAC rs772717076
- gnomAD rs772717076
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.56
- ESM-1b 0.41
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM 0.35
- CADD 24.80
- Structural context available