K42E (p.Lys42Glu) variant of FLNA (Filamin-A)
K42E (p.Lys42Glu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FLNA-related disorder. The record also includes structural context.
K42E (p.Lys42Glu) variant details
- p.Lys42Glu
- rs2522771783
- ClinGen CA415255460
- ClinVar RCV004528715
- Likely pathogenic
- FLNA-related disorder
- Missense
- ClinVar: Likely pathogenic (FLNA-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available