R99H (p.Arg99His) variant of CHRNA4 (P43681)
R99H (p.Arg99His) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/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 0.47 / 1. The record also includes population frequency data and published literature.
R99H (p.Arg99His) variant details
- p.Arg99His
- rs143103435
- ClinGen CA313609
- ClinVar RCV000460546
- ClinVar RCV000844908
- Benign/Likely benign
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.46
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Benign/Likely benign (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Benign
- UniProt: 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)