F62I (p.Phe62Ile) variant of AGL (Glycogen debranching enzyme)
F62I (p.Phe62Ile) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
F62I (p.Phe62Ile) variant details
- p.Phe62Ile
- cosmic curated COSV54057
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.27
- MetaSVM -0.42
- CADD 24.70
- Structural context available