L90M (p.Leu90Met) variant of SPI1 (Transcription factor PU.1)
L90M (p.Leu90Met) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L90M (p.Leu90Met) variant details
- p.Leu90Met
- ExAC rs771040203
- gnomAD rs771040203
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.10
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Population evidence available
- Structural context available