G129D (p.Gly129Asp) variant of VPS13C (Q709C8)
G129D (p.Gly129Asp) 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 0.32 / 1. The record also includes population frequency data and structural context.
G129D (p.Gly129Asp) variant details
- p.Gly129Asp
- rs200758205
- ClinGen CA271939285
- ClinVar RCV003853592
- ClinVar RCV004750942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -1.07
- CADD 23.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available