V80F (p.Val80Phe) variant of VPS13C (Q709C8)
V80F (p.Val80Phe) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V80F (p.Val80Phe) variant details
- p.Val80Phe
- rs116290723
- ClinGen CA7597627
- ClinVar RCV001901871
- 1000Genomes rs116290723
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.65
- MetaSVM 0.43
- CADD 23.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available