R50P (p.Arg50Pro) variant of KCNJ11 (Q14654)
R50P (p.Arg50Pro) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of KCNJ11-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- rs80356611
- ClinGen CA340803
- ClinVar RCV000009205
- ClinVar RCV001089464
- Pathogenic
- KCNJ11-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.56
- MetaLR 0.83
- MetaSVM 0.79
- SIFT 0.02
- MutPred 0.67
- ClinVar: Pathogenic (KCNJ11-related disorder)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. (PMID 15580558)
- Cited in: Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional… (PMID 16731833)