S16R (p.Ser16Arg) variant of GHR (Growth hormone receptor)
S16R (p.Ser16Arg) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- TOPMed rs1174610023
- gnomAD rs1174610023
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available