K124I (p.Lys124Ile) variant of VPS13C (Q709C8)
K124I (p.Lys124Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K124I (p.Lys124Ile) variant details
- p.Lys124Ile
- gnomAD rs1370737800
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.12
- MetaSVM -0.88
- CADD 26.70
- Most common in the South Asian population (allele frequency 7.2e-05)
- Structural context available