F55S (p.Phe55Ser) variant of VPS13C (Q709C8)
F55S (p.Phe55Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
F55S (p.Phe55Ser) variant details
- p.Phe55Ser
- ExAC rs746605224
- gnomAD rs746605224
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.74
- MetaSVM 0.66
- CADD 29.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available