R141W (p.Arg141Trp) variant of INSR (Insulin receptor)
R141W (p.Arg141Trp) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R141W (p.Arg141Trp) variant details
- p.Arg141Trp
- rs1555689823
- ClinGen CA403159519
- ClinVar RCV000507254
- Ensembl rs1555689823
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.81
- MetaLR 0.74
- MetaSVM 0.65
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available