K44Q (p.Lys44Gln) variant of VPS13C (Q709C8)
K44Q (p.Lys44Gln) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K44Q (p.Lys44Gln) variant details
- p.Lys44Gln
- cosmic curated COSV51141
- ExAC rs772653631
- TOPMed rs772653631
- gnomAD rs772653631
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.82
- MetaSVM 0.83
- CADD 26.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available