A112D (p.Ala112Asp) variant of PYGM (P11217)
A112D (p.Ala112Asp) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
A112D (p.Ala112Asp) variant details
- p.Ala112Asp
- TOPMed rs2058411300
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- SIFT 0.00
- Structural context available