A23V (p.Ala23Val) variant of SCN1A (P35498)
A23V (p.Ala23Val) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Early-infantile DEE; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs139397227
- ClinGen CA317367
- ClinVar RCV000188917
- ClinVar RCV000534453
- Benign/Likely benign
- not specified; Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.17
- ClinVar: Benign/Likely benign (not specified; Early-infantile DEE; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)