A66S (p.Ala66Ser) variant of SPI1 (Transcription factor PU.1)
A66S (p.Ala66Ser) 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 0.09 / 1. The record also includes population frequency data and structural context.
A66S (p.Ala66Ser) variant details
- p.Ala66Ser
- ExAC rs113825984
- TOPMed rs113825984
- gnomAD rs113825984
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0928
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.97
- CADD 1.17
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available