A28T (p.Ala28Thr) variant of KCNB1 (Q14721)
A28T (p.Ala28Thr) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs2516924643
- ClinGen CA408952096
- ClinVar RCV003749203
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.22
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available