T9Y (p.Thr9Tyr) variant of GHR (Growth hormone receptor)
T9Y (p.Thr9Tyr) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T9Y (p.Thr9Tyr) variant details
- p.Thr9Tyr
- rs747188385
- gnomAD 5-42565867-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 25.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available