E128G (p.Glu128Gly) variant of PYGM (P11217)
E128G (p.Glu128Gly) in PYGM (P11217) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E128G (p.Glu128Gly) variant details
- p.Glu128Gly
- TOPMed rs1383044080
- gnomAD rs1383044080
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 27.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available