N458D (p.Asn458Asp) variant of INSR (Insulin receptor)
N458D (p.Asn458Asp) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leprechaunism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N458D (p.Asn458Asp) variant details
- p.Asn458Asp
- rs121913160
- ClinGen CA124275
- ClinVar RCV000015829
- UniProt VAR 031521
- Pathogenic
- Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.89
- MetaLR 0.91
- MetaSVM 1.02
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genotype-phenotype correlation in inherited severe insulin resistance. (PMID 12023989)
- Cited in: Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes… (PMID 12970295)