M120V (p.Met120Val) variant of PYGM (P11217)
M120V (p.Met120Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
M120V (p.Met120Val) variant details
- p.Met120Val
- TOPMed rs886943655
- gnomAD rs886943655
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM 0.04
- CADD 22.20
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available