Q52* (p.Gln52Ter) variant of KCNJ11 (Q14654)
Q52* (p.Gln52Ter) in KCNJ11 (Q14654) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PNDM2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q52* (p.Gln52Ter) variant details
- p.Gln52Ter
- rs879253757
- ClinGen CA10584023
- ClinVar RCV000234886
- ClinVar RCV002226700
- Pathogenic
- in PNDM2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 38.00
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)