I28F (p.Ile28Phe) variant of GHR (Growth hormone receptor)
I28F (p.Ile28Phe) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I28F (p.Ile28Phe) variant details
- p.Ile28Phe
- gnomAD 5-42629049-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.21
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available
- Literature evidence available