Y171H (p.Tyr171His) variant of INSR (Insulin receptor)
Y171H (p.Tyr171His) in INSR (Insulin receptor) is a missense change. 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.
Y171H (p.Tyr171His) variant details
- p.Tyr171His
- rs1051692
- UniProt VAR 058396
- Ensembl rs1051692
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.50
- MetaLR 0.46
- MetaSVM -0.34
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. (PMID 2859121)