S139G (p.Ser139Gly) variant of GYS2 (P54840)
S139G (p.Ser139Gly) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S139G (p.Ser139Gly) variant details
- p.Ser139Gly
- TOPMed rs946381757
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 1.02
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available