P79L (p.Pro79Leu) variant of SPI1 (Transcription factor PU.1)
P79L (p.Pro79Leu) 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 0.33 / 1. The record also includes population frequency data and structural context.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- ExAC rs746398377
- TOPMed rs746398377
- gnomAD rs746398377
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -1.06
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available