K384E (p.Lys384Glu) variant of SMC1A (Q14683)
K384E (p.Lys384Glu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 85, with or without midline brain de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
K384E (p.Lys384Glu) variant details
- p.Lys384Glu
- rs2075714342
- ClinGen CA413256795
- ClinVar RCV001195912
- Ensembl rs2075714342
- Uncertain significance
- Developmental and epileptic encephalopathy, 85, with or without midline brain de
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.37
- MetaSVM -0.28
- PolyPhen-2 0.50
- SIFT 0.09
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 85, with or without)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)