G47R (p.Gly47Arg) variant of INS (Insulin)
G47R (p.Gly47Arg) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- gnomAD rs1313322794
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.89
- MetaLR 0.87
- MetaSVM 0.92
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available