L27V (p.Leu27Val) variant of VPS13C (Q709C8)
L27V (p.Leu27Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- ExAC rs776636452
- gnomAD rs776636452
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.73
- MetaSVM 0.52
- CADD 35.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available