I118V (p.Ile118Val) variant of VPS13C (Q709C8)
I118V (p.Ile118Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I118V (p.Ile118Val) variant details
- p.Ile118Val
- ExAC rs752989073
- gnomAD rs752989073
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.65
- MetaSVM 0.39
- CADD 24.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available