S20S (p.Ser20Ser) variant of GHR (Growth hormone receptor)
S20S (p.Ser20Ser) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- rs1449015244
- gnomAD 5-42565934-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available