I139V (p.Ile139Val) variant of INSR (Insulin receptor)
I139V (p.Ile139Val) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I139V (p.Ile139Val) variant details
- p.Ile139Val
- TOPMed rs1967776372
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.59
- MetaLR 0.68
- MetaSVM 0.27
- CADD 23.10
- PolyPhen-2 0.92
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available