H35Q (p.His35Gln) variant of PYGM (P11217)
H35Q (p.His35Gln) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
H35Q (p.His35Gln) variant details
- p.His35Gln
- TOPMed rs2058422236
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available