L8R (p.Leu8Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
L8R (p.Leu8Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The record also includes structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- Ensembl rs2064372077
- Missense
- Structural context available