K61T (p.Lys61Thr) variant of AGL (Glycogen debranching enzyme)
K61T (p.Lys61Thr) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K61T (p.Lys61Thr) variant details
- p.Lys61Thr
- ExAC rs749028648
- gnomAD rs749028648
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.08
- CADD 19.61
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available