R6G (p.Arg6Gly) variant of INS (Insulin)
R6G (p.Arg6Gly) in INS (Insulin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in MODY10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs121908278
- NCI-TCGA Cosmic COSV5174
- NCI-TCGA Cosmic COSV9917
- cosmic curated COSV99171
- Variant assessed as somatic; moderate impact.
- in MODY10
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.52
- MetaLR 0.85
- MetaSVM 0.48
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact. (in MODY10)
- Most common in the South Asian population (allele frequency 1.2e-05)