Y18F (p.Tyr18Phe) variant of VPS13C (Q709C8)
Y18F (p.Tyr18Phe) 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 structural context.
Y18F (p.Tyr18Phe) variant details
- p.Tyr18Phe
- Ensembl rs2048961598
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.61
- ESM-1b 0.09
- AlphaMissense 0.24
- MetaLR 0.60
- MetaSVM 0.18
- CADD 24.20
- Structural context available