R141Q (p.Arg141Gln) variant of INSR (Insulin receptor)
R141Q (p.Arg141Gln) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R141Q (p.Arg141Gln) variant details
- p.Arg141Gln
- rs747649085
- ClinGen CA9136123
- ClinVar RCV003054497
- ExAC rs747649085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.73
- MetaLR 0.68
- MetaSVM 0.51
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available