P9S (p.Pro9Ser) variant of CHRNA4 (P43681)
P9S (p.Pro9Ser) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs2516580191
- ClinGen CA409644957
- ClinVar RCV003746741
- ClinVar RCV005806801
- Conflicting interpretations
- Inborn genetic diseases; Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.13
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Familial sleep-related hypermotor epile)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- 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)