M1I (p.Met1Ile) variant of COL4A5 (Collagen alpha-5(IV) chain)
M1I (p.Met1Ile) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2523832524
- ClinGen CA413905873
- ClinVar RCV003579063
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available