Y84H (p.Tyr84His) variant of PYGM (P11217)
Y84H (p.Tyr84His) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y84H (p.Tyr84His) variant details
- p.Tyr84His
- gnomAD rs1344134587
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 25.80
- PolyPhen-2 0.63
- SIFT 0.01
- Population evidence available
- Structural context available