D63V (p.Asp63Val) variant of VPS13C (Q709C8)
D63V (p.Asp63Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D63V (p.Asp63Val) variant details
- p.Asp63Val
- TOPMed rs1224271827
- gnomAD rs1224271827
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.42
- MetaLR 0.51
- MetaSVM -0.02
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available