W59R (p.Trp59Arg) variant of GYS2 (P54840)
W59R (p.Trp59Arg) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
W59R (p.Trp59Arg) variant details
- p.Trp59Arg
- Ensembl rs1944496482
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available