K68R (p.Lys68Arg) variant of VPS13C (Q709C8)
K68R (p.Lys68Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K68R (p.Lys68Arg) variant details
- p.Lys68Arg
- TOPMed rs1201619555
- gnomAD rs1201619555
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.68
- ESM-1b 0.21
- AlphaMissense 0.13
- MetaLR 0.74
- MetaSVM 0.63
- CADD 26.40
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available