E106Q (p.Glu106Gln) variant of PYGM (P11217)
E106Q (p.Glu106Gln) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E106Q (p.Glu106Gln) variant details
- p.Glu106Gln
- gnomAD rs935327691
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available