V6A (p.Val6Ala) variant of VPS13C (Q709C8)
V6A (p.Val6Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- TOPMed rs1424768791
- gnomAD rs1424768791
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.56
- MetaSVM 0.18
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available