E509D (p.Glu509Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
E509D (p.Glu509Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Corneal dystrophy, Meesmann, 2. The record also includes structural context.
E509D (p.Glu509Asp) variant details
- p.Glu509Asp
- rs2498757244
- ClinGen CA384966557
- ClinVar RCV003389583
- Likely pathogenic
- Corneal dystrophy, Meesmann, 2
- Missense
- ClinVar: Likely pathogenic (Corneal dystrophy, Meesmann, 2)
- EBI: Likely pathogenic (in MECD2)
- UniProt: Likely pathogenic (in MECD2)
- Structural context available