P70A (p.Pro70Ala) variant of VPS13C (Q709C8)
P70A (p.Pro70Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P70A (p.Pro70Ala) variant details
- p.Pro70Ala
- TOPMed rs1245655927
- gnomAD rs1245655927
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.89
- MetaSVM 1.00
- CADD 27.10
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available