I172F (p.Ile172Phe) variant of INSR (Insulin receptor)
I172F (p.Ile172Phe) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I172F (p.Ile172Phe) variant details
- p.Ile172Phe
- ExAC rs771145256
- TOPMed rs771145256
- gnomAD rs771145256
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.70
- MetaLR 0.61
- MetaSVM 0.31
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available