E27G (p.Glu27Gly) variant of PYGM (P11217)
E27G (p.Glu27Gly) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- rs1305717617
- ClinGen CA381112997
- ClinVar RCV002664139
- TOPMed rs1305717617
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)