D49N (p.Asp49Asn) variant of KCNQ3 (O43525)
D49N (p.Asp49Asn) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial neonatal, 2. 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.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- rs886062693
- ClinGen CA10627069
- ClinVar RCV000339411
- gnomAD rs886062693
- Uncertain significance
- Seizures, benign familial neonatal, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (Seizures, benign familial neonatal, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ3-Related Disorders. (PMID 24851285)