S157Y (p.Ser157Tyr) variant of GYS2 (P54840)
S157Y (p.Ser157Tyr) 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 0.38 / 1. The record also includes population frequency data and structural context.
S157Y (p.Ser157Tyr) variant details
- p.Ser157Tyr
- ExAC rs774019135
- TOPMed rs774019135
- gnomAD rs774019135
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 19.50
- PolyPhen-2 0.08
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available