V76M (p.Val76Met) variant of CHRNA4 (P43681)
V76M (p.Val76Met) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
V76M (p.Val76Met) variant details
- p.Val76Met
- rs201115841
- ClinGen CA9957940
- ClinVar RCV001223917
- ClinVar RCV003222263
- Uncertain significance
- not provided; Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.78
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)