K105E (p.Lys105Glu) variant of VPS13C (Q709C8)
K105E (p.Lys105Glu) 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.
K105E (p.Lys105Glu) variant details
- p.Lys105Glu
- TOPMed rs1460613285
- gnomAD rs1460613285
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.63
- MetaSVM 0.41
- CADD 25.40
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available