L122P (p.Leu122Pro) variant of VPS13C (Q709C8)
L122P (p.Leu122Pro) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L122P (p.Leu122Pro) variant details
- p.Leu122Pro
- ExAC rs749936773
- gnomAD rs749936773
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.19
- MetaSVM -0.72
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available