V48L (p.Val48Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
V48L (p.Val48Leu) in COL6A1 (Collagen alpha-1(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.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- NCI-TCGA Cosmic COSV1007
- NCI-TCGA Cosmic COSV6261
- cosmic curated COSV62611
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available