H3P (p.His3Pro) variant of AGL (Glycogen debranching enzyme)
H3P (p.His3Pro) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
H3P (p.His3Pro) variant details
- p.His3Pro
- ExAC rs752437446
- TOPMed rs752437446
- gnomAD rs752437446
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.13
- MetaSVM -0.95
- CADD 16.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available