D104A (p.Asp104Ala) variant of CHRNA4 (P43681)
D104A (p.Asp104Ala) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial sleep-related hypermotor epilepsy; Inborn genetic disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
D104A (p.Asp104Ala) variant details
- p.Asp104Ala
- rs202042826
- ClinGen CA317441862
- ClinVar RCV001206006
- ClinVar RCV001587223
- Conflicting interpretations
- not provided; Familial sleep-related hypermotor epilepsy; Inborn genetic disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.70
- CADD 26.30
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial sleep-related hypermotor epilepsy; Inborn)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)