R147P (p.Arg147Pro) variant of GYS2 (P54840)
R147P (p.Arg147Pro) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R147P (p.Arg147Pro) variant details
- p.Arg147Pro
- ExAC rs760649869
- TOPMed rs760649869
- gnomAD rs760649869
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.58
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available