C11Y (p.Cys11Tyr) variant of COL4A4 (Collagen alpha-4(IV) chain)
C11Y (p.Cys11Tyr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alport syndrome. The record also includes variant effect predictions and structural context.
C11Y (p.Cys11Tyr) variant details
- p.Cys11Tyr
- ExAC rs770345405
- gnomAD rs770345405
- Uncertain significance
- Alport syndrome
- Missense
- MetaLR 0.44
- MetaSVM -0.64
- SIFT 1.00
- ClinVar: Uncertain significance (Alport syndrome)
- UniProt: Uncertain significance
- Structural context available