M144I (p.Met144Ile) variant of KCNB1 (Q14721)
M144I (p.Met144Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
M144I (p.Met144Ile) variant details
- p.Met144Ile
- rs1179147119
- gnomAD rs1179147119
- ClinGen CA408949538
- ClinVar RCV001221859
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.46
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)