P14L (p.Pro14Leu) variant of CHRNA4 (P43681)
P14L (p.Pro14Leu) 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 0.10 / 1. The record also includes population frequency data and published literature.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs761934698
- ClinGen CA313536
- ClinVar RCV000654330
- ClinVar RCV001704973
- Likely benign
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.11
- CADD 3.79
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- 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)