H3Q (p.His3Gln) variant of AGL (Glycogen debranching enzyme)
H3Q (p.His3Gln) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
H3Q (p.His3Gln) variant details
- p.His3Gln
- Ensembl rs1571206038
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.95
- CADD 19.91
- Structural context available