D79Y (p.Asp79Tyr) variant of PYGM (P11217)
D79Y (p.Asp79Tyr) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
D79Y (p.Asp79Tyr) variant details
- p.Asp79Tyr
- TOPMed rs1025481959
- gnomAD rs1025481959
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available