F62L (p.Phe62Leu) variant of SPI1 (Transcription factor PU.1)
F62L (p.Phe62Leu) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Agammaglobulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- ESP rs368215281
- ExAC rs368215281
- TOPMed rs368215281
- gnomAD rs368215281
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.03
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Benign (Agammaglobulinemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available