D93E (p.Asp93Glu) variant of GYS2 (P54840)
D93E (p.Asp93Glu) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D93E (p.Asp93Glu) variant details
- p.Asp93Glu
- rs779704436
- ClinGen CA321416
- ClinVar RCV000196989
- ExAC rs779704436
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.19
- PolyPhen-2 0.13
- SIFT 0.59
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available