V167L (p.Val167Leu) variant of INSR (Insulin receptor)
V167L (p.Val167Leu) in INSR (Insulin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IRAN type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V167L (p.Val167Leu) variant details
- p.Val167Leu
- rs938519025
- cosmic curated COSV10459
- UniProt VAR 015910
- TOPMed rs938519025
- Pathogenic
- in IRAN type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.53
- MetaLR 0.52
- MetaSVM -0.06
- CADD 22.90
- PolyPhen-2 0.49
- SIFT 0.01
- EBI: Pathogenic (in IRAN type A)
- UniProt: Pathogenic (in IRAN type A)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. (PMID 10733238)
- Cited in: Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A… (PMID 11260230)