G132A (p.Gly132Ala) variant of GYS2 (P54840)
G132A (p.Gly132Ala) in GYS2 (P54840) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
G132A (p.Gly132Ala) variant details
- p.Gly132Ala
- 1000Genomes rs541099681
- ExAC rs541099681
- TOPMed rs541099681
- gnomAD rs541099681
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- ESM-1b 1.00
- AlphaMissense 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available