A32E (p.Ala32Glu) variant of GHR (Growth hormone receptor)
A32E (p.Ala32Glu) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A32E (p.Ala32Glu) variant details
- p.Ala32Glu
- gnomAD 5-42629062-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.25
- CADD 2.04
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Literature evidence available