P374A (p.Pro374Ala) variant of KCNQ3 (O43525)
P374A (p.Pro374Ala) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial neonatal, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
P374A (p.Pro374Ala) variant details
- p.Pro374Ala
- rs1295477856
- ClinGen CA372289855
- ClinVar RCV003326111
- Likely pathogenic
- Seizures, benign familial neonatal, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)