E104G (p.Glu104Gly) variant of VPS13C (Q709C8)
E104G (p.Glu104Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E104G (p.Glu104Gly) variant details
- p.Glu104Gly
- TOPMed rs1304703659
- gnomAD rs1304703659
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.71
- MetaSVM 0.57
- CADD 26.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available