D43Y (p.Asp43Tyr) variant of COL6A1 (Collagen alpha-1(VI) chain)
D43Y (p.Asp43Tyr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- NCI-TCGA Cosmic COSV6261
- Uncertain significance
- Missense
- EBI: uncertain significance
- UniProt: Uncertain significance
- Structural context available