L43R (p.Leu43Arg) variant of CNTNAP2 (Q9UHC6)
L43R (p.Leu43Arg) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cortical dysplasia-focal epilepsy syndrome. The record also includes structural context.
L43R (p.Leu43Arg) variant details
- p.Leu43Arg
- rs2485547309
- ClinGen CA369922283
- ClinVar RCV003614755
- ClinVar RCV004765944
- Uncertain significance
- not provided; Cortical dysplasia-focal epilepsy syndrome
- Missense
- ClinVar: Uncertain significance (not provided; Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available