W4* (p.Trp4Ter) variant of GHR (Growth hormone receptor)
W4* (p.Trp4Ter) in GHR (Growth hormone receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- rs2478311889
- ClinGen CA359694396
- ClinVar RCV003555188
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available