T39A (p.Thr39Ala) variant of PYGM (P11217)
T39A (p.Thr39Ala) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- ExAC rs762103405
- gnomAD rs762103405
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- ESM-1b 1.00
- AlphaMissense 0.68
- Structural context available