P6L (p.Pro6Leu) variant of CHRNA4 (P43681)
P6L (p.Pro6Leu) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs1238575890
- ClinGen CA409645003
- ClinVar RCV000560700
- TOPMed rs1238575890
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.19
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)