K111E (p.Lys111Glu) variant of VPS13C (Q709C8)
K111E (p.Lys111Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
K111E (p.Lys111Glu) variant details
- p.Lys111Glu
- gnomAD rs1250421946
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.81
- MetaSVM 0.86
- CADD 25.70
- Structural context available