V30M (p.Val30Met) variant of CHRNA4 (P43681)
V30M (p.Val30Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and published literature.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs746557446
- ClinGen CA313603
- ClinVar RCV000186962
- ClinVar RCV001374314
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.03
- CADD 13.70
- PolyPhen-2 0.07
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)