I43V (p.Ile43Val) variant of VPS13C (Q709C8)
I43V (p.Ile43Val) 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 0.40 / 1. The record also includes population frequency data and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- rs1009689306
- ClinGen CA271895964
- ClinVar RCV001883658
- TOPMed rs1009689306
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.50
- MetaSVM -0.14
- CADD 23.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available