I28G (p.Ile28Gly) variant of GHR (Growth hormone receptor)
I28G (p.Ile28Gly) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I28G (p.Ile28Gly) variant details
- p.Ile28Gly
- gnomAD 5-42629046-GCTATC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available