D99G (p.Asp99Gly) variant of VPS13C (Q709C8)
D99G (p.Asp99Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D99G (p.Asp99Gly) variant details
- p.Asp99Gly
- gnomAD rs1334626339
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.79
- MetaSVM 0.78
- CADD 27.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available