F23C (p.Phe23Cys) variant of AGL (Glycogen debranching enzyme)
F23C (p.Phe23Cys) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F23C (p.Phe23Cys) variant details
- p.Phe23Cys
- gnomAD rs1342547734
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.35
- MetaSVM -0.23
- CADD 25.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available