Y144D (p.Tyr144Asp) variant of VPS13C (Q709C8)
Y144D (p.Tyr144Asp) 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 0.37 / 1. The record also includes population frequency data and structural context.
Y144D (p.Tyr144Asp) variant details
- p.Tyr144Asp
- gnomAD rs1460030098
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.16
- MetaSVM -0.83
- CADD 26.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available