E127D (p.Glu127Asp) variant of VPS13C (Q709C8)
E127D (p.Glu127Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes structural context.
E127D (p.Glu127Asp) variant details
- p.Glu127Asp
- Ensembl rs2047884162
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.06
- CADD 19.63
- Structural context available