A43A (p.Ala43Ala) variant of AGL (Glycogen debranching enzyme)
A43A (p.Ala43Ala) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A43A (p.Ala43Ala) variant details
- p.Ala43Ala
- gnomAD 1-99861549-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available