E50K (p.Glu50Lys) variant of VPS13C (Q709C8)
E50K (p.Glu50Lys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- TOPMed rs1218168458
- gnomAD rs1218168458
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.56
- MetaSVM 0.17
- CADD 28.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available