Q26H (p.Gln26His) variant of VPS13C (Q709C8)
Q26H (p.Gln26His) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- ESP rs371034613
- ExAC rs371034613
- TOPMed rs371034613
- gnomAD rs371034613
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.72
- MetaSVM 0.51
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available