Q73R (p.Gln73Arg) variant of PYGM (P11217)
Q73R (p.Gln73Arg) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
Q73R (p.Gln73Arg) variant details
- p.Gln73Arg
- ExAC rs760927188
- gnomAD rs760927188
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- ESM-1b 1.00
- AlphaMissense 0.76
- Structural context available