S157C (p.Ser157Cys) variant of GYS2 (P54840)
S157C (p.Ser157Cys) 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 0.41 / 1. The record also includes population frequency data and structural context.
S157C (p.Ser157Cys) variant details
- p.Ser157Cys
- ExAC rs774019135
- TOPMed rs774019135
- gnomAD rs774019135
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 26.30
- PolyPhen-2 0.91
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available