M21L (p.Met21Leu) variant of KCNB1 (Q14721)
M21L (p.Met21Leu) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M21L (p.Met21Leu) variant details
- p.Met21Leu
- rs1345254263
- ClinGen CA408952241
- ClinVar RCV003074206
- ClinVar RCV003228113
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available