I7V (p.Ile7Val) variant of AGL (Glycogen debranching enzyme)
I7V (p.Ile7Val) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- rs528647083
- gnomAD 1-99852679-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.04
- CADD 6.40
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available