N13K (p.Asn13Lys) variant of AGL (Glycogen debranching enzyme)
N13K (p.Asn13Lys) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N13K (p.Asn13Lys) variant details
- p.Asn13Lys
- 1000Genomes rs138203039
- ESP rs138203039
- ExAC rs138203039
- TOPMed rs138203039
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.23
- MetaSVM -0.72
- CADD 21.70
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available