L81R (p.Leu81Arg) variant of SPI1 (Transcription factor PU.1)
L81R (p.Leu81Arg) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Agammaglobulinemia. The record also includes structural context.
L81R (p.Leu81Arg) variant details
- p.Leu81Arg
- gnomAD rs1335120705
- Benign
- Agammaglobulinemia
- Missense
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Structural context available