T45K (p.Thr45Lys) variant of GHR (Growth hormone receptor)
T45K (p.Thr45Lys) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T45K (p.Thr45Lys) variant details
- p.Thr45Lys
- gnomAD 5-42629101-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available