M21K (p.Met21Lys) variant of KCNB1 (Q14721)
M21K (p.Met21Lys) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
M21K (p.Met21Lys) variant details
- p.Met21Lys
- gnomAD rs1299388667
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.39
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available