G14G (p.Gly14Gly) variant of GHR (Growth hormone receptor)
G14G (p.Gly14Gly) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G14G (p.Gly14Gly) variant details
- p.Gly14Gly
- rs1250687306
- gnomAD 5-42565916-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available