T99N (p.Thr99Asn) variant of COL5A2 (Collagen alpha-2(V) chain)

T99N (p.Thr99Asn) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

T99N (p.Thr99Asn) variant details