T6A (p.Thr6Ala) variant of KCNB1 (Q14721)
T6A (p.Thr6Ala) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- rs1053853164
- ClinGen CA315158687
- ClinVar RCV003587111
- TOPMed rs1053853164
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.25
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.65
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00013)