T9S (p.Thr9Ser) variant of GHR (Growth hormone receptor)
T9S (p.Thr9Ser) 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 0.38 / 1. The record also includes population frequency data and structural context.
T9S (p.Thr9Ser) variant details
- p.Thr9Ser
- 1000Genomes rs528933970
- ExAC rs528933970
- TOPMed rs528933970
- gnomAD rs528933970
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.32
- CADD 24.10
- PolyPhen-2 0.19
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available