V110F (p.Val110Phe) variant of VPS13C (Q709C8)
V110F (p.Val110Phe) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V110F (p.Val110Phe) variant details
- p.Val110Phe
- gnomAD rs1201702799
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.34
- MetaSVM -0.65
- CADD 13.73
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available