K17I (p.Lys17Ile) variant of AGL (Glycogen debranching enzyme)
K17I (p.Lys17Ile) 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 0.35 / 1. The record also includes structural context.
K17I (p.Lys17Ile) variant details
- p.Lys17Ile
- NCI-TCGA Cosmic COSV5404
- cosmic curated COSV54047
- NCI-TCGA Cosmic COSV5405
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.18
- MetaSVM -0.90
- CADD 21.10
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available