I28S (p.Ile28Ser) variant of GHR (Growth hormone receptor)
I28S (p.Ile28Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I28S (p.Ile28Ser) variant details
- p.Ile28Ser
- ExAC rs756184879
- gnomAD rs756184879
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.26
- CADD 9.27
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available