L106F (p.Leu106Phe) variant of INSR (Insulin receptor)
L106F (p.Leu106Phe) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
L106F (p.Leu106Phe) variant details
- p.Leu106Phe
- TOPMed rs1478172030
- gnomAD rs1478172030
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.06
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available