K72N (p.Lys72Asn) variant of VPS13C (Q709C8)
K72N (p.Lys72Asn) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K72N (p.Lys72Asn) variant details
- p.Lys72Asn
- cosmic curated COSV51229
- ExAC rs770884783
- TOPMed rs770884783
- gnomAD rs770884783
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.13
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available