F138V (p.Phe138Val) variant of G6PD (P11413)
F138V (p.Phe138Val) in G6PD (P11413) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
F138V (p.Phe138Val) variant details
- p.Phe138Val
- cosmic curated COSV10085
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic
- Structural context available