V1054M (p.Val1054Met) variant of INSR (Insulin receptor)
V1054M (p.Val1054Met) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in IRAN type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V1054M (p.Val1054Met) variant details
- p.Val1054Met
- rs1135401741
- ClinVar RCV000496626
- UniProt VAR 079549
- gnomAD rs1135401741
- no classification for the single variant
- in IRAN type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.86
- MetaLR 0.86
- MetaSVM 0.95
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: no classification for the single variant (in IRAN type A)
- EBI: Pathogenic (in IRAN type A)
- UniProt: Pathogenic (in IRAN type A)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. (PMID 28765322)
- Cited in: Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. (PMID 10733238)