I28T (p.Ile28Thr) variant of GHR (Growth hormone receptor)
I28T (p.Ile28Thr) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- gnomAD 5-42629050-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.17
- CADD 6.06
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available