T25K (p.Thr25Lys) variant of GHR (Growth hormone receptor)
T25K (p.Thr25Lys) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T25K (p.Thr25Lys) variant details
- p.Thr25Lys
- gnomAD 5-42629041-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.45
- CADD 8.81
- PolyPhen-2 0.28
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available