G72S (p.Gly72Ser) variant of KCNQ3 (O43525)
G72S (p.Gly72Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- rs759310149
- ClinGen CA4880997
- ClinVar RCV000822042
- ClinVar RCV001593018
- Uncertain significance
- Inborn genetic diseases; Benign neonatal seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.37
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases; Benign neonatal seizures; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-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)