K111R (p.Lys111Arg) variant of VPS13C (Q709C8)
K111R (p.Lys111Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K111R (p.Lys111Arg) variant details
- p.Lys111Arg
- ExAC rs772271867
- gnomAD rs772271867
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.57
- ESM-1b 0.48
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM 0.40
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available