F19L (p.Phe19Leu) variant of GHR (Growth hormone receptor)
F19L (p.Phe19Leu) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- TOPMed rs1167904304
- gnomAD rs1167904304
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.15
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available