F23V (p.Phe23Val) variant of AGL (Glycogen debranching enzyme)
F23V (p.Phe23Val) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F23V (p.Phe23Val) variant details
- p.Phe23Val
- gnomAD 1-99851109-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.34
- ESM-1b 0.90
- AlphaMissense 0.91
- MetaLR 0.27
- MetaSVM -0.58
- CADD 24.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available