Y84C (p.Tyr84Cys) variant of PYGM (P11217)
Y84C (p.Tyr84Cys) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
Y84C (p.Tyr84Cys) variant details
- p.Tyr84Cys
- ExAC rs774159335
- gnomAD rs774159335
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.67
- MetaSVM 0.28
- SIFT 0.00
- Structural context available