G30R (p.Gly30Arg) variant of VPS13C (Q709C8)
G30R (p.Gly30Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- TOPMed rs914849309
- gnomAD rs914849309
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.80
- MetaSVM 0.85
- CADD 29.60
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available