D146Y (p.Asp146Tyr) variant of GYS2 (P54840)
D146Y (p.Asp146Tyr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D146Y (p.Asp146Tyr) variant details
- p.Asp146Tyr
- 1000Genomes rs187237403
- ExAC rs187237403
- gnomAD rs187237403
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available