R5Q (p.Arg5Gln) variant of GYS2 (P54840)
R5Q (p.Arg5Gln) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- 1000Genomes rs535288005
- ExAC rs535288005
- TOPMed rs535288005
- gnomAD rs535288005
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available