L4A (p.Leu4Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
L4A (p.Leu4Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L4A (p.Leu4Ala) variant details
- p.Leu4Ala
- rs2477329625
- ClinGen CA2580616722
- ClinVar RCV002468839
- ClinVar RCV005429082
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available