K5E (p.Lys5Glu) variant of AGL (Glycogen debranching enzyme)
K5E (p.Lys5Glu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- cosmic curated COSV54048
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.17
- MetaSVM -0.83
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available