P51P (p.Pro51Pro) variant of AGL (Glycogen debranching enzyme)
P51P (p.Pro51Pro) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P51P (p.Pro51Pro) variant details
- p.Pro51Pro
- rs1263017347
- gnomAD 1-99861573-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available