P37S (p.Pro37Ser) variant of AGL (Glycogen debranching enzyme)
P37S (p.Pro37Ser) 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 population frequency data, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs780701177
- gnomAD 1-99852676-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.05
- ESM-1b 0.44
- AlphaMissense 0.38
- MetaLR 0.09
- MetaSVM -1.01
- CADD 2.76
- Population evidence available
- Structural context available
- Literature evidence available