V24L (p.Val24Leu) variant of KCNB1 (Q14721)
V24L (p.Val24Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- rs778774389
- ClinGen CA408952168
- ClinVar RCV002612846
- ClinVar RCV006255416
- Uncertain significance
- Developmental and epileptic encephalopathy, 26; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available