E61D (p.Glu61Asp) variant of GYS2 (P54840)
E61D (p.Glu61Asp) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. 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.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- ExAC rs750525944
- TOPMed rs750525944
- gnomAD rs750525944
- NCI-TCGA Cosmic COSV5392
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 9.32
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available