T49A (p.Thr49Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
T49A (p.Thr49Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- NCI-TCGA Cosmic COSV5508
- Ensembl rs1574756989
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available