Y12* (p.Tyr12Ter) variant of KCNJ11 (Q14654)
Y12* (p.Tyr12Ter) in KCNJ11 (Q14654) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Y12* (p.Tyr12Ter) variant details
- p.Tyr12Ter
- rs104894236
- ClinGen CA254517
- ClinVar RCV000009208
- ClinVar RCV001851756
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 27.60
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. (PMID 9356020)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)