W4R (p.Trp4Arg) variant of GHR (Growth hormone receptor)
W4R (p.Trp4Arg) 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 0.46 / 1. The record also includes population frequency data and structural context.
W4R (p.Trp4Arg) variant details
- p.Trp4Arg
- ExAC rs34838342
- TOPMed rs34838342
- gnomAD rs34838342
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.42
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available