F135L (p.Phe135Leu) variant of VPS13C (Q709C8)
F135L (p.Phe135Leu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F135L (p.Phe135Leu) variant details
- p.Phe135Leu
- TOPMed rs1478172880
- gnomAD rs1478172880
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.55
- MetaLR 0.07
- MetaSVM -1.08
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available