A3T (p.Ala3Thr) variant of KCNB1 (Q14721)
A3T (p.Ala3Thr) 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 0.43 / 1. The record also includes population frequency data.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs1980535333
- ClinGen CA408952620
- ClinVar RCV003855814
- gnomAD rs1980535333
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.23
- CADD 20.40
- PolyPhen-2 0.04
- SIFT 0.32
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)