T72A (p.Thr72Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)

T72A (p.Thr72Ala) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

T72A (p.Thr72Ala) variant details