S22S (p.Ser22Ser) variant of GHR (Growth hormone receptor)
S22S (p.Ser22Ser) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- rs1749905390
- gnomAD 5-42565940-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 7.97
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available