K17R (p.Lys17Arg) variant of AGL (Glycogen debranching enzyme)
K17R (p.Lys17Arg) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K17R (p.Lys17Arg) variant details
- p.Lys17Arg
- cosmic curated COSV54050
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.98
- CADD 16.26
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disease type III)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available