K102E (p.Lys102Glu) variant of VPS13C (Q709C8)
K102E (p.Lys102Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K102E (p.Lys102Glu) variant details
- p.Lys102Glu
- ExAC rs769645120
- gnomAD rs769645120
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.58
- MetaSVM 0.23
- CADD 25.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available