V7A (p.Val7Ala) variant of VPS13C (Q709C8)
V7A (p.Val7Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- ExAC rs753568052
- gnomAD rs753568052
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.68
- MetaSVM 0.45
- CADD 26.80
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available