Q65L (p.Gln65Leu) variant of INS (Insulin)
Q65L (p.Gln65Leu) 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 0.19 / 1. The record also includes population frequency data and structural context.
Q65L (p.Gln65Leu) variant details
- p.Gln65Leu
- ExAC rs773102009
- TOPMed rs773102009
- gnomAD rs773102009
- Uncertain significance
- Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Maturity-on
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.15
- MetaLR 0.47
- MetaSVM -0.68
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonata)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 7.5e-05)
- Structural context available