Q26R (p.Gln26Arg) variant of VPS13C (Q709C8)
Q26R (p.Gln26Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- Ensembl rs2048959806
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.76
- MetaSVM 0.70
- CADD 26.40
- Structural context available