M100L (p.Met100Leu) variant of PYGM (P11217)
M100L (p.Met100Leu) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
M100L (p.Met100Leu) variant details
- p.Met100Leu
- TOPMed rs2058411628
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.54
- MetaSVM 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available