L122V (p.Leu122Val) variant of VPS13C (Q709C8)
L122V (p.Leu122Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L122V (p.Leu122Val) variant details
- p.Leu122Val
- Ensembl rs1596507218
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.88
- CADD 22.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available