S18A (p.Ser18Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
S18A (p.Ser18Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The record also includes structural context.
S18A (p.Ser18Ala) variant details
- p.Ser18Ala
- Ensembl rs2063621553
- Missense
- Structural context available