E32D (p.Glu32Asp) variant of GYS2 (P54840)
E32D (p.Glu32Asp) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GYS2-related disorders; Glycogen storage disorder due to hepatic glycogen syntha. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- ExAC rs756956421
- TOPMed rs756956421
- gnomAD rs756956421
- Conflicting interpretations
- GYS2-related disorders; Glycogen storage disorder due to hepatic glycogen syntha
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (GYS2-related disorders; Glycogen storage disorder due to hepatic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available