E26K (p.Glu26Lys) variant of AGL (Glycogen debranching enzyme)
E26K (p.Glu26Lys) 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 0.28 / 1. The record also includes structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54054
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.15
- MetaSVM -0.88
- CADD 23.90
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available