F53L (p.Phe53Leu) variant of SPI1 (Transcription factor PU.1)
F53L (p.Phe53Leu) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Agammaglobulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99908
- Pathogenic
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.05
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Pathogenic (Agammaglobulinemia)
- UniProt: Pathogenic
- Population evidence available
- Structural context available