T113P (p.Thr113Pro) variant of PYGM (P11217)
T113P (p.Thr113Pro) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
T113P (p.Thr113Pro) variant details
- p.Thr113Pro
- Ensembl rs1592415865
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 0.89
- Structural context available