A26A (p.Ala26Ala) variant of GHR (Growth hormone receptor)
A26A (p.Ala26Ala) 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.
A26A (p.Ala26Ala) variant details
- p.Ala26Ala
- rs904748525
- gnomAD 5-42629045-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 9.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available