P14L (p.Pro14Leu) variant of SPI1 (Transcription factor PU.1)
P14L (p.Pro14Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- ExAC rs768484369
- gnomAD rs768484369
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available