T25Q (p.Thr25Gln) variant of GHR (Growth hormone receptor)
T25Q (p.Thr25Gln) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T25Q (p.Thr25Gln) variant details
- p.Thr25Gln
- gnomAD 5-42629037-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available