H3Y (p.His3Tyr) variant of AGL (Glycogen debranching enzyme)
H3Y (p.His3Tyr) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H3Y (p.His3Tyr) variant details
- p.His3Tyr
- gnomAD 1-99851049-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.18
- MetaSVM -0.70
- CADD 21.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available