A43V (p.Ala43Val) variant of KCNQ2 (O43526)
A43V (p.Ala43Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy; Inborn genetic diseases; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs749554385
- ClinGen CA315543
- ClinVar RCV000187941
- ClinVar RCV000817367
- Conflicting interpretations
- Developmental and epileptic encephalopathy; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy; Inborn genetic disea)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)