S94R (p.Ser94Arg) variant of KCNQ3 (O43525)
S94R (p.Ser94Arg) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures; Seizures, benign familial neonatal, 2; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S94R (p.Ser94Arg) variant details
- p.Ser94Arg
- rs200519334
- ClinGen CA4880982
- ClinVar RCV001162577
- ClinVar RCV002559552
- Uncertain significance
- Benign neonatal seizures; Seizures, benign familial neonatal, 2; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.08
- ClinVar: Uncertain significance (Benign neonatal seizures; Seizures, benign familial neonatal, 2;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)