P9L (p.Pro9Leu) variant of KCNJ11 (Q14654)
P9L (p.Pro9Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1953594033
- ClinGen CA379777721
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV002821529
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.41
- MetaLR 0.75
- MetaSVM 0.66
- SIFT 0.00
- MutPred 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)