E37K (p.Glu37Lys) variant of CHRNA4 (P43681)
E37K (p.Glu37Lys) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs778087682
- ClinGen CA9957969
- NCI-TCGA Cosmic COSV6471
- ClinVar RCV001351324
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.52
- AlphaMissense 0.76
- MetaLR 0.46
- MetaSVM 0.18
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)