A139S (p.Ala139Ser) variant of GBA1 (P04062)
A139S (p.Ala139Ser) in GBA1 (P04062) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
A139S (p.Ala139Ser) variant details
- p.Ala139Ser
- NCI-TCGA Cosmic COSV5916
- cosmic curated COSV59169
- TOPMed rs878853314
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available