F118S (p.Phe118Ser) variant of GYS2 (P54840)
F118S (p.Phe118Ser) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F118S (p.Phe118Ser) variant details
- p.Phe118Ser
- ExAC rs764967152
- TOPMed rs764967152
- gnomAD rs764967152
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 28.70
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available