I34N (p.Ile34Asn) variant of AR (Androgen receptor)
I34N (p.Ile34Asn) in AR (Androgen 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 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I34N (p.Ile34Asn) variant details
- p.Ile34Asn
- rs995307851
- ClinGen CA330757105
- ClinVar RCV002786915
- TOPMed rs995307851
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- AR Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.372
- 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)