A25T (p.Ala25Thr) variant of KCNQ3 (O43525)
A25T (p.Ala25Thr) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Benign neonatal seizures; Seizures, benign familial neo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs1280461599
- ClinGen CA372292950
- ClinVar RCV002312424
- ClinVar RCV002499304
- Uncertain significance
- Inborn genetic diseases; Benign neonatal seizures; Seizures, benign familial neo
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Benign neonatal seizures; Seizures, ben)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-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)