D146N (p.Asp146Asn) variant of VPS13C (Q709C8)
D146N (p.Asp146Asn) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D146N (p.Asp146Asn) variant details
- p.Asp146Asn
- ExAC rs756914549
- gnomAD rs756914549
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available