P99L (p.Pro99Leu) variant of SPI1 (Transcription factor PU.1)
P99L (p.Pro99Leu) 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 0.31 / 1. The record also includes population frequency data and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- gnomAD rs1483757482
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available