N150D (p.Asn150Asp) variant of INSR (Insulin receptor)
N150D (p.Asn150Asp) in INSR (Insulin 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.
N150D (p.Asn150Asp) variant details
- p.Asn150Asp
- rs2512520109
- ClinGen CA403159462
- ClinVar RCV003263449
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.22
- MetaLR 0.28
- MetaSVM -0.67
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)