K44N (p.Lys44Asn) variant of GHR (Growth hormone receptor)
K44N (p.Lys44Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K44N (p.Lys44Asn) variant details
- p.Lys44Asn
- rs1167022629
- ClinGen CA359694836
- ClinVar RCV004390556
- gnomAD rs1167022629
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.13
- CADD 15.30
- PolyPhen-2 0.04
- SIFT 0.48
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)