P102L (p.Pro102Leu) variant of SPI1 (Transcription factor PU.1)
P102L (p.Pro102Leu) 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 0.24 / 1. The record also includes population frequency data and structural context.
P102L (p.Pro102Leu) variant details
- p.Pro102Leu
- gnomAD rs1485776430
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.04
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available