K53T (p.Lys53Thr) variant of INS (Insulin)
K53T (p.Lys53Thr) 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 0.48 / 1. The record also includes population frequency data and structural context.
K53T (p.Lys53Thr) variant details
- p.Lys53Thr
- 1000Genomes rs202244834
- ExAC rs202244834
- TOPMed rs202244834
- Uncertain significance
- Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Maturity-on
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.56
- MetaLR 0.64
- MetaSVM 0.03
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Uncertain significance (Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonata)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available