A28G (p.Ala28Gly) variant of KCNB1 (Q14721)
A28G (p.Ala28Gly) 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 0.55 / 1. The record also includes population frequency data and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- ExAC rs769852170
- TOPMed rs769852170
- gnomAD rs769852170
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.41
- CADD 24.50
- PolyPhen-2 0.39
- SIFT 0.02
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available