S106F (p.Ser106Phe) variant of VPS13C (Q709C8)
S106F (p.Ser106Phe) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S106F (p.Ser106Phe) variant details
- p.Ser106Phe
- TOPMed rs1358364995
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.26
- MetaSVM -0.89
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available