T937M (p.Thr937Met) variant of INSR (Insulin receptor)
T937M (p.Thr937Met) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Leprechaunism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T937M (p.Thr937Met) variant details
- p.Thr937Met
- rs1972802448
- ClinGen CA403671968
- cosmic curated COSV57159
- ClinVar RCV003389276
- Likely pathogenic
- Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.64
- MetaLR 0.47
- MetaSVM 0.07
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. (PMID 28765322)
- Cited in: Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. (PMID 9299395)