R8Q (p.Arg8Gln) variant of AGL (Glycogen debranching enzyme)
R8Q (p.Arg8Gln) 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.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- gnomAD 1-99851065-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.73
- MetaLR 0.51
- MetaSVM -0.03
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available