P103L (p.Pro103Leu) variant of SPI1 (Transcription factor PU.1)
P103L (p.Pro103Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
P103L (p.Pro103Leu) variant details
- p.Pro103Leu
- gnomAD rs2095918093
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.10
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available