E23* (p.Glu23Ter) variant of GHR (Growth hormone receptor)
E23* (p.Glu23Ter) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- gnomAD 5-42565941-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 35.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available