S37C (p.Ser37Cys) variant of KCNJ11 (Q14654)
S37C (p.Ser37Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- gnomAD rs1375461209
- Uncertain significance
- Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.60
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.05
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypog)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available