L136R (p.Leu136Arg) variant of INSR (Insulin receptor)
L136R (p.Leu136Arg) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L136R (p.Leu136Arg) variant details
- p.Leu136Arg
- ExAC rs749713053
- gnomAD rs749713053
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.88
- MetaLR 0.85
- MetaSVM 0.94
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available