I96F (p.Ile96Phe) variant of VPS13C (Q709C8)
I96F (p.Ile96Phe) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I96F (p.Ile96Phe) variant details
- p.Ile96Phe
- ESP rs142305905
- ExAC rs142305905
- gnomAD rs142305905
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.65
- MetaSVM 0.39
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available