L17Q (p.Leu17Gln) variant of COL4A3 (Collagen alpha-3(IV) chain)
L17Q (p.Leu17Gln) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The record also includes structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- TOPMed rs1286962739
- Missense
- Structural context available