K97E (p.Lys97Glu) variant of VPS13C (Q709C8)
K97E (p.Lys97Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K97E (p.Lys97Glu) variant details
- p.Lys97Glu
- ExAC rs772717076
- gnomAD rs772717076
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.50
- MetaSVM 0.11
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available