L103Q (p.Leu103Gln) variant of PYGM (P11217)
L103Q (p.Leu103Gln) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
L103Q (p.Leu103Gln) variant details
- p.Leu103Gln
- TOPMed rs1427813602
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.85
- MetaSVM 0.91
- SIFT 0.00
- Structural context available