A33V (p.Ala33Val) variant of KCNQ3 (O43525)
A33V (p.Ala33Val) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Benign neonatal seizures; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs761196042
- ClinGen CA4881027
- ClinVar RCV001036330
- ClinVar RCV003346260
- Conflicting interpretations
- Benign neonatal seizures; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.31
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (Benign neonatal seizures; Inborn genetic diseases; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0002)
- 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)