V30L (p.Val30Leu) variant of CHRNA4 (P43681)
V30L (p.Val30Leu) 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 0.10 / 1. The record also includes population frequency data and published literature.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- rs746557446
- ClinGen CA9957976
- ClinVar RCV001322247
- ExAC rs746557446
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.03
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)