F19S (p.Phe19Ser) variant of GHR (Growth hormone receptor)
F19S (p.Phe19Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F19S (p.Phe19Ser) variant details
- p.Phe19Ser
- rs1397295577
- ClinGen CA359694487
- ClinVar RCV003677667
- TOPMed rs1397295577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.47
- CADD 27.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available