N21S (p.Asn21Ser) variant of VPS13C (Q709C8)
N21S (p.Asn21Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- Ensembl rs947661270
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.72
- MetaSVM 0.55
- CADD 23.70
- Structural context available