C138R (p.Cys138Arg) variant of GYS2 (P54840)
C138R (p.Cys138Arg) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
C138R (p.Cys138Arg) variant details
- p.Cys138Arg
- ExAC rs747533320
- TOPMed rs747533320
- gnomAD rs747533320
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available