I28I (p.Ile28Ile) variant of GHR (Growth hormone receptor)
I28I (p.Ile28Ile) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I28I (p.Ile28Ile) variant details
- p.Ile28Ile
- rs776748737
- gnomAD 5-42629051-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 2.74
- Most common in the Non-Finnish European population (allele frequency 8e-05)
- Structural context available
- Literature evidence available