L23Q (p.Leu23Gln) variant of INSR (Insulin receptor)
L23Q (p.Leu23Gln) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- gnomAD rs1234918359
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.80
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available