K155N (p.Lys155Asn) variant of VPS13C (Q709C8)
K155N (p.Lys155Asn) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K155N (p.Lys155Asn) variant details
- p.Lys155Asn
- TOPMed rs1260506994
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.61
- MetaLR 0.16
- MetaSVM -0.86
- CADD 27.10
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available