K37N (p.Lys37Asn) variant of COL4A5 (Collagen alpha-5(IV) chain)
K37N (p.Lys37Asn) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
K37N (p.Lys37Asn) variant details
- p.Lys37Asn
- ExAC rs765197123
- TOPMed rs765197123
- gnomAD rs765197123
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available