A18E (p.Ala18Glu) variant of KCNJ11 (Q14654)
A18E (p.Ala18Glu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- rs41309072
- ClinGen CA379777497
- ClinVar RCV002295865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.16
- MetaLR 0.21
- MetaSVM -0.83
- SIFT 0.06
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs41309072)
- UniProt: Uncertain significance (in dbSNP:rs41309072)
- Structural context available