Q42P (p.Gln42Pro) variant of VPS13C (Q709C8)
Q42P (p.Gln42Pro) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q42P (p.Gln42Pro) variant details
- p.Gln42Pro
- Ensembl rs2140731658
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.40
- ESM-1b 0.11
- AlphaMissense 0.40
- MetaLR 0.39
- MetaSVM -0.14
- CADD 22.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available