N13N (p.Asn13Asn) variant of AGL (Glycogen debranching enzyme)
N13N (p.Asn13Asn) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N13N (p.Asn13Asn) variant details
- p.Asn13Asn
- rs138203039
- gnomAD 1-99851081-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 12.20
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available