P21L (p.Pro21Leu) variant of KCNJ11 (Q14654)
P21L (p.Pro21Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- Ensembl rs1953593069
- Conflicting interpretations
- Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.42
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypog)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available