F23L (p.Phe23Leu) variant of AGL (Glycogen debranching enzyme)
F23L (p.Phe23Leu) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- TOPMed rs1648916089
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54056
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.31
- ESM-1b 0.05
- AlphaMissense 0.98
- MetaLR 0.25
- MetaSVM -0.59
- CADD 23.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available