K152R (p.Lys152Arg) variant of VPS13C (Q709C8)
K152R (p.Lys152Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K152R (p.Lys152Arg) variant details
- p.Lys152Arg
- cosmic curated COSV51269
- ExAC rs781198699
- TOPMed rs781198699
- gnomAD rs781198699
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.84
- CADD 24.60
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available