K42R (p.Lys42Arg) variant of AGL (Glycogen debranching enzyme)
K42R (p.Lys42Arg) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- TOPMed rs1405236727
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.07
- CADD 18.73
- Structural context available