P92S (p.Pro92Ser) variant of G6PD (P11413)
P92S (p.Pro92Ser) in G6PD (P11413) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The record also includes structural context.
P92S (p.Pro92Ser) variant details
- p.Pro92Ser
- cosmic curated COSV10970
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- UniProt: Likely pathogenic
- Structural context available