T45I (p.Thr45Ile) variant of GHR (Growth hormone receptor)
T45I (p.Thr45Ile) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- gnomAD 5-42629101-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.33
- CADD 29.50
- PolyPhen-2 0.25
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available