C138S (p.Cys138Ser) variant of GYS2 (P54840)
C138S (p.Cys138Ser) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
C138S (p.Cys138Ser) variant details
- p.Cys138Ser
- TOPMed rs1162919810
- gnomAD rs1162919810
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.20
- ESM-1b 0.97
- AlphaMissense 0.29
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available