G42E (p.Gly42Glu) variant of GYS2 (P54840)
G42E (p.Gly42Glu) in GYS2 (P54840) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- rs1336397751
- gnomAD rs1336397751
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available