F19F (p.Phe19Phe) variant of GHR (Growth hormone receptor)
F19F (p.Phe19Phe) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F19F (p.Phe19Phe) variant details
- p.Phe19Phe
- rs1393290129
- gnomAD 5-42565931-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 9.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available