Y29H (p.Tyr29His) variant of AGL (Glycogen debranching enzyme)
Y29H (p.Tyr29His) 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 0.26 / 1. The record also includes structural context.
Y29H (p.Tyr29His) variant details
- p.Tyr29His
- NCI-TCGA Cosmic COSV9965
- cosmic curated COSV99650
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.13
- MetaSVM -0.95
- CADD 22.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available