R162L (p.Arg162Leu) variant of INSR (Insulin receptor)
R162L (p.Arg162Leu) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R162L (p.Arg162Leu) variant details
- p.Arg162Leu
- ExAC rs767746469
- TOPMed rs767746469
- gnomAD rs767746469
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.90
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available