L22V (p.Leu22Val) variant of VPS13C (Q709C8)
L22V (p.Leu22Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- gnomAD rs1254476108
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.64
- ESM-1b 0.63
- AlphaMissense 0.61
- MetaLR 0.67
- MetaSVM 0.35
- CADD 26.10
- Structural context available