W59S (p.Trp59Ser) variant of GYS2 (P54840)
W59S (p.Trp59Ser) in GYS2 (P54840) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
W59S (p.Trp59Ser) variant details
- p.Trp59Ser
- ExAC rs201868350
- TOPMed rs201868350
- gnomAD rs201868350
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available