P254L (p.Pro254Leu) variant of KCNJ11 (Q14654)
P254L (p.Pro254Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P254L (p.Pro254Leu) variant details
- p.Pro254Leu
- rs104894237
- ClinGen CA254520
- ClinVar RCV000009210
- ClinVar RCV002226640
- Likely pathogenic
- not provided; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellit
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hyperinsulinemic hypoglycemia, familial, 2; Type 2)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Population evidence available
- Structural context available
- Cited in: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. (PMID 15579781)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)