T81S (p.Thr81Ser) variant of KCNQ3 (O43525)
T81S (p.Thr81Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T81S (p.Thr81Ser) variant details
- p.Thr81Ser
- rs77663285
- ClinGen CA4880990
- ClinVar RCV001991924
- 1000Genomes rs77663285
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.32
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available