Y30S (p.Tyr30Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
Y30S (p.Tyr30Ser) 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.
Y30S (p.Tyr30Ser) variant details
- p.Tyr30Ser
- 1000Genomes rs150305490
- ESP rs150305490
- ExAC rs150305490
- TOPMed rs150305490
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available