Q115L (p.Gln115Leu) variant of PYGM (P11217)
Q115L (p.Gln115Leu) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
Q115L (p.Gln115Leu) variant details
- p.Gln115Leu
- gnomAD rs879158851
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.87
- MetaSVM 0.91
- SIFT 0.00
- Structural context available