G18R (p.Gly18Arg) variant of INS (Insulin)
G18R (p.Gly18Arg) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs748696269
- ClinGen CA5818198
- ClinVar RCV004158356
- ExAC rs748696269
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.44
- MetaLR 0.32
- MetaSVM -0.75
- CADD 15.80
- SIFT 0.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available