A119P (p.Ala119Pro) variant of INSR (Insulin receptor)
A119P (p.Ala119Pro) 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.
A119P (p.Ala119Pro) variant details
- p.Ala119Pro
- gnomAD rs929761465
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.92
- MetaLR 0.85
- MetaSVM 0.97
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available