D146A (p.Asp146Ala) variant of GYS2 (P54840)
D146A (p.Asp146Ala) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
D146A (p.Asp146Ala) variant details
- p.Asp146Ala
- Ensembl rs1591800646
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.33
- SIFT 0.00
- Structural context available