D165V (p.Asp165Val) variant of STAT1 (P42224)
D165V (p.Asp165Val) in STAT1 (P42224) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD31C. The record also includes structural context.
D165V (p.Asp165Val) variant details
- p.Asp165Val
- Ensembl rs387906764
- Pathogenic
- in IMD31C
- Missense
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available