V64I (p.Val64Ile) variant of CHRNA4 (P43681)
V64I (p.Val64Ile) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- rs756367182
- ClinGen CA9957951
- ClinVar RCV002009834
- ClinVar RCV002573510
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.62
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 7e-05)
- 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)