K53E (p.Lys53Glu) variant of INS (Insulin)
K53E (p.Lys53Glu) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Maturity-on. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- ESP rs368338862
- ExAC rs368338862
- TOPMed rs368338862
- gnomAD rs368338862
- Uncertain significance
- Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Maturity-on
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.74
- MetaLR 0.82
- MetaSVM 0.81
- CADD 24.80
- SIFT 0.03
- ClinVar: Uncertain significance (Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonata)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available