L127P (p.Leu127Pro) variant of GYS2 (P54840)
L127P (p.Leu127Pro) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disorder due to hepatic glycogen synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L127P (p.Leu127Pro) variant details
- p.Leu127Pro
- ExAC rs760594068
- gnomAD rs760594068
- Uncertain significance
- Glycogen storage disorder due to hepatic glycogen synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available