Y48C (p.Tyr48Cys) variant of COL6A2 (Collagen alpha-2(VI) chain)
Y48C (p.Tyr48Cys) in COL6A2 (Collagen alpha-2(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.
Y48C (p.Tyr48Cys) variant details
- p.Tyr48Cys
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10015
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available