S4S (p.Ser4Ser) variant of AGL (Glycogen debranching enzyme)
S4S (p.Ser4Ser) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- gnomAD 1-99852687-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 6.63
- Most common in the REMAINING population (allele frequency 3e-05)
- Structural context available
- Literature evidence available