I146M (p.Ile146Met) variant of INSR (Insulin receptor)
I146M (p.Ile146Met) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I146M (p.Ile146Met) variant details
- p.Ile146Met
- rs121913159
- ClinGen CA124271
- ClinVar RCV000015826
- UniProt VAR 015539
- Pathogenic
- Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.67
- MetaLR 0.75
- MetaSVM 0.30
- CADD 18.60
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Population evidence available
- Structural context available
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)
- Cited in: Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin… (PMID 7815442)