N21K (p.Asn21Lys) variant of VPS13C (Q709C8)
N21K (p.Asn21Lys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N21K (p.Asn21Lys) variant details
- p.Asn21Lys
- ExAC rs762630528
- TOPMed rs762630528
- gnomAD rs762630528
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.74
- MetaSVM 0.66
- CADD 25.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available