R31* (p.Arg31Ter) variant of GHR (Growth hormone receptor)
R31* (p.Arg31Ter) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- gnomAD 5-42629058-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available