T99A (p.Thr99Ala) variant of PYGM (P11217)
T99A (p.Thr99Ala) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
T99A (p.Thr99Ala) variant details
- p.Thr99Ala
- Ensembl rs2058411654
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- ESM-1b 0.00
- AlphaMissense 0.20
- SIFT 0.00
- Structural context available