N141D (p.Asn141Asp) variant of VPS13C (Q709C8)
N141D (p.Asn141Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N141D (p.Asn141Asp) variant details
- p.Asn141Asp
- ExAC rs755431892
- TOPMed rs755431892
- gnomAD rs755431892
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.09
- CADD 19.55
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available