A28V (p.Ala28Val) variant of KCNB1 (Q14721)
A28V (p.Ala28Val) 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; not provided. 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.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs769852170
- ClinGen CA9903231
- ClinVar RCV001205931
- ClinVar RCV001760170
- Uncertain significance
- Developmental and epileptic encephalopathy, 26; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.42
- CADD 24.50
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available