S18R (p.Ser18Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
S18R (p.Ser18Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The record also includes structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- Ensembl rs1308265114
- Missense
- Structural context available