G99R (p.Gly99Arg) variant of GYS2 (P54840)
G99R (p.Gly99Arg) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
G99R (p.Gly99Arg) variant details
- p.Gly99Arg
- ExAC rs754215144
- gnomAD rs754215144
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available