R74Q (p.Arg74Gln) variant of INSR (Insulin receptor)
R74Q (p.Arg74Gln) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rabson-Mendenhall syndrome; Leprechaunism syndrome; Insulin-resistant diabetes m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs766295952
- ClinGen CA9136153
- ClinVar RCV001130980
- ClinVar RCV001130981
- Uncertain significance
- Rabson-Mendenhall syndrome; Leprechaunism syndrome; Insulin-resistant diabetes m
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.49
- MetaLR 0.37
- MetaSVM -0.26
- CADD 23.60
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (Rabson-Mendenhall syndrome; Leprechaunism syndrome; Insulin-resi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available
- Cited in: INSR-Related Severe Insulin Resistance Syndrome. (PMID 29369573)