V57I (p.Val57Ile) variant of VPS13C (Q709C8)
V57I (p.Val57Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- Ensembl rs2140711994
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.35
- ESM-1b 0.56
- AlphaMissense 0.09
- MetaLR 0.58
- MetaSVM 0.17
- CADD 22.80
- Structural context available