S16G (p.Ser16Gly) variant of GHR (Growth hormone receptor)
S16G (p.Ser16Gly) in GHR (Growth hormone receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- 1000Genomes rs547124461
- ExAC rs547124461
- gnomAD rs547124461
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.12
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.015)
- Structural context available