D86Y (p.Asp86Tyr) variant of GYS2 (P54840)
D86Y (p.Asp86Tyr) in GYS2 (P54840) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D86Y (p.Asp86Tyr) variant details
- p.Asp86Tyr
- TOPMed rs1401658816
- gnomAD rs1401658816
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available