T62R (p.Thr62Arg) variant of KCNJ11 (Q14654)
T62R (p.Thr62Arg) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemia; Atopic eczema; Hypoglycemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
T62R (p.Thr62Arg) variant details
- p.Thr62Arg
- rs1057518775
- ClinGen CA16043457
- ClinVar RCV000415398
- gnomAD rs1057518775
- Likely pathogenic
- Hyperinsulinemia; Atopic eczema; Hypoglycemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.11
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (Hyperinsulinemia; Atopic eczema; Hypoglycemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available