L39Q (p.Leu39Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)

L39Q (p.Leu39Gln) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes structural context.

L39Q (p.Leu39Gln) variant details