F55L (p.Phe55Leu) variant of KCNJ11 (Q14654)
F55L (p.Phe55Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- rs1343400778
- ClinGen CA379776138
- ClinVar RCV003062335
- ClinVar RCV003459722
- Conflicting interpretations
- not provided; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.92
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Type 2 diabetes mellitus)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell… (PMID 16332676)
- Cited in: Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel… (PMID 18596924)