V110D (p.Val110Asp) variant of VPS13C (Q709C8)
V110D (p.Val110Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V110D (p.Val110Asp) variant details
- p.Val110Asp
- gnomAD rs911493647
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.22
- ESM-1b 0.92
- AlphaMissense 0.13
- MetaLR 0.36
- MetaSVM -0.49
- CADD 15.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available