R46G (p.Arg46Gly) variant of INSR (Insulin receptor)
R46G (p.Arg46Gly) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- ExAC rs780532714
- gnomAD rs780532714
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.27
- MetaLR 0.39
- MetaSVM -0.50
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available