A40S (p.Ala40Ser) variant of ALPL (P05186)
A40S (p.Ala40Ser) in ALPL (P05186) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HOPS. The record also includes population frequency data and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- gnomAD rs1455153945
- Likely pathogenic
- in HOPS
- Missense
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Population evidence available
- Structural context available