P6S (p.Pro6Ser) variant of CHRNA4 (P43681)
P6S (p.Pro6Ser) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.23 / 1. The record also includes population frequency data and published literature.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs796052312
- ClinGen CA313532
- ClinVar RCV000186917
- ClinVar RCV001443486
- Likely benign
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.13
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- 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)