R46S (p.Arg46Ser) variant of INSR (Insulin receptor)
R46S (p.Arg46Ser) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R46S (p.Arg46Ser) variant details
- p.Arg46Ser
- gnomAD rs1267080515
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- MetaLR 0.38
- MetaSVM -0.52
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available