K149R (p.Lys149Arg) variant of KCNB1 (Q14721)
K149R (p.Lys149Arg) 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 0.45 / 1. The record also includes population frequency data.
K149R (p.Lys149Arg) variant details
- p.Lys149Arg
- rs373914175
- ClinGen CA9903207
- ClinVar RCV003884994
- ClinVar RCV005101455
- Uncertain significance
- Developmental and epileptic encephalopathy, 26; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)