W107R (p.Trp107Arg) variant of GYS2 (P54840)
W107R (p.Trp107Arg) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
W107R (p.Trp107Arg) variant details
- p.Trp107Arg
- gnomAD rs1215714641
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available