R13C (p.Arg13Cys) variant of VPS13C (Q709C8)
R13C (p.Arg13Cys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- TOPMed rs2048962362
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.80
- MetaSVM 0.75
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available