K20T (p.Lys20Thr) variant of AGL (Glycogen debranching enzyme)
K20T (p.Lys20Thr) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K20T (p.Lys20Thr) variant details
- p.Lys20Thr
- gnomAD 1-99851101-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.13
- MetaSVM -0.99
- CADD 15.68
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available