A37D (p.Ala37Asp) variant of VPS13C (Q709C8)
A37D (p.Ala37Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A37D (p.Ala37Asp) variant details
- p.Ala37Asp
- TOPMed rs2048335117
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.67
- MetaSVM 0.37
- CADD 26.20
- Population evidence available
- Structural context available