I31L (p.Ile31Leu) variant of VPS13C (Q709C8)
I31L (p.Ile31Leu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
I31L (p.Ile31Leu) variant details
- p.Ile31Leu
- ExAC rs780395971
- gnomAD rs780395971
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.38
- MetaSVM -0.30
- CADD 24.40
- Structural context available