D63G (p.Asp63Gly) variant of VPS13C (Q709C8)
D63G (p.Asp63Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D63G (p.Asp63Gly) variant details
- p.Asp63Gly
- TOPMed rs1224271827
- gnomAD rs1224271827
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -0.99
- CADD 19.17
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available