G42G (p.Gly42Gly) variant of GHR (Growth hormone receptor)
G42G (p.Gly42Gly) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G42G (p.Gly42Gly) variant details
- p.Gly42Gly
- rs773634630
- gnomAD 5-42629093-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 7.75
- Most common in the Latino/Admixed American population (allele frequency 7.3e-05)
- Structural context available
- Literature evidence available