N53K (p.Asn53Lys) variant of ABCA3 (Q99758)

N53K (p.Asn53Lys) in ABCA3 (Q99758) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

N53K (p.Asn53Lys) variant details