R19K (p.Arg19Lys) variant of SCN2A (Q99250)
R19K (p.Arg19Lys) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- rs17183814
- ClinGen CA155062
- cosmic curated COSV51834
- ClinVar RCV000118260
- Benign
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Benign (Complex neurodevelopmental disorder)
- EBI: Benign (in dbSNP:rs17183814)
- UniProt: Benign (in dbSNP:rs17183814)
- Population evidence available
- Structural context available
- Cited in: A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures… (PMID 11371648)
- Cited in: Sodium channels SCN1A, SCN2A and SCN3A in familial autism. (PMID 12610651)