Y144S (p.Tyr144Ser) variant of VPS13C (Q709C8)
Y144S (p.Tyr144Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Y144S (p.Tyr144Ser) variant details
- p.Tyr144Ser
- Ensembl rs186094508
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.84
- CADD 24.10
- Structural context available