S116P (p.Ser116Pro) variant of VPS13C (Q709C8)
S116P (p.Ser116Pro) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S116P (p.Ser116Pro) variant details
- p.Ser116Pro
- ExAC rs754390607
- gnomAD rs754390607
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.34
- MetaSVM -0.66
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available