I74L (p.Ile74Leu) variant of CHRNA4 (P43681)
I74L (p.Ile74Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
I74L (p.Ile74Leu) variant details
- p.Ile74Leu
- rs2068771449
- ClinGen CA409643071
- ClinVar RCV001049783
- ClinVar RCV002553211
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.52
- CADD 25.00
- PolyPhen-2 0.71
- SIFT 0.05
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00027)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)