S25P (p.Ser25Pro) variant of VPS13C (Q709C8)
S25P (p.Ser25Pro) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- Ensembl rs1227718804
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.74
- MetaSVM 0.65
- CADD 28.50
- Structural context available