M120L (p.Met120Leu) variant of PYGM (P11217)
M120L (p.Met120Leu) 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 0.56 / 1. The record also includes published literature and structural context.
M120L (p.Met120Leu) variant details
- p.Met120Leu
- rs886943655
- ClinGen CA381109972
- ClinVar RCV002837802
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM 0.04
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)