R55H (p.Arg55His) variant of INS (Insulin)
R55H (p.Arg55His) in INS (Insulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
R55H (p.Arg55His) variant details
- p.Arg55His
- rs1184417816
- NCI-TCGA Cosmic COSV5174
- cosmic curated COSV51748
- gnomAD rs1184417816
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.76
- MetaLR 0.82
- MetaSVM 0.91
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in T1D2)
- Most common in the South Asian population (allele frequency 2.3e-05)