S5L (p.Ser5Leu) variant of VPS13C (Q709C8)
S5L (p.Ser5Leu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- Ensembl rs1849045344
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.81
- MetaSVM 0.85
- CADD 32.00
- Population evidence available
- Structural context available