R256C (p.Arg256Cys) variant of INSR (Insulin receptor)
R256C (p.Arg256Cys) 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 RMS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R256C (p.Arg256Cys) variant details
- p.Arg256Cys
- rs781007453
- ClinVar RCV000496343
- UniProt VAR 079536
- ExAC rs781007453
- no classification for the single variant
- in RMS
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.89
- MetaLR 0.84
- MetaSVM 0.92
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: no classification for the single variant (in RMS)
- EBI: Pathogenic (in RMS)
- UniProt: Pathogenic (in RMS)
- 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: INSR-Related Severe Insulin Resistance Syndrome. (PMID 29369573)