F64L (p.Phe64Leu) variant of GYS2 (P54840)
F64L (p.Phe64Leu) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F64L (p.Phe64Leu) variant details
- p.Phe64Leu
- TOPMed rs1218654364
- gnomAD rs1218654364
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.16
- ESM-1b 0.43
- AlphaMissense 0.94
- CADD 22.80
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available