H34R (p.His34Arg) variant of INS (Insulin)
H34R (p.His34Arg) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, 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 and structural context.
H34R (p.His34Arg) variant details
- p.His34Arg
- Ensembl rs1564912274
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.80
- MetaLR 0.71
- MetaSVM 0.51
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic (in HPRI)
- UniProt: Likely pathogenic (in HPRI)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available