Q73P (p.Gln73Pro) variant of PYGM (P11217)
Q73P (p.Gln73Pro) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
Q73P (p.Gln73Pro) variant details
- p.Gln73Pro
- ExAC rs760927188
- gnomAD rs760927188
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available