F10L (p.Phe10Leu) variant of SPI1 (Transcription factor PU.1)
F10L (p.Phe10Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
F10L (p.Phe10Leu) variant details
- p.Phe10Leu
- ExAC rs766553435
- TOPMed rs766553435
- gnomAD rs766553435
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available