L22R (p.Leu22Arg) variant of VPS13C (Q709C8)
L22R (p.Leu22Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- TOPMed rs1183422854
- gnomAD rs1183422854
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.91
- CADD 29.10
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available