D17N (p.Asp17Asn) variant of VPS13C (Q709C8)
D17N (p.Asp17Asn) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- cosmic curated COSV10505
- ExAC rs774042449
- TOPMed rs774042449
- gnomAD rs774042449
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.42
- MetaSVM -0.25
- CADD 24.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available