N23K (p.Asn23Lys) variant of VPS13C (Q709C8)
N23K (p.Asn23Lys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
N23K (p.Asn23Lys) variant details
- p.Asn23Lys
- cosmic curated COSV99827
- TOPMed rs965627981
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.53
- MetaSVM 0.03
- CADD 26.10
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available