T45A (p.Thr45Ala) variant of GHR (Growth hormone receptor)
T45A (p.Thr45Ala) in GHR (Growth hormone receptor) is a missense 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.
T45A (p.Thr45Ala) variant details
- p.Thr45Ala
- gnomAD 5-42629100-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available