D146V (p.Asp146Val) variant of VPS13C (Q709C8)
D146V (p.Asp146Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D146V (p.Asp146Val) variant details
- p.Asp146Val
- TOPMed rs1347461520
- gnomAD rs1347461520
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.10
- MetaSVM -0.98
- CADD 24.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available