K124N (p.Lys124Asn) variant of VPS13C (Q709C8)
K124N (p.Lys124Asn) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
K124N (p.Lys124Asn) variant details
- p.Lys124Asn
- TOPMed rs2047884335
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.15
- MetaSVM -0.92
- CADD 23.40
- Structural context available