K64Q (p.Lys64Gln) variant of VPS13C (Q709C8)
K64Q (p.Lys64Gln) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
K64Q (p.Lys64Gln) variant details
- p.Lys64Gln
- Ensembl rs2047943117
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.66
- MetaSVM 0.41
- CADD 25.80
- Structural context available