P15A (p.Pro15Ala) variant of SPI1 (Transcription factor PU.1)
P15A (p.Pro15Ala) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Agammaglobulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- rs771555522
- ClinVar RCV005230703
- ExAC rs771555522
- TOPMed rs771555522
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.03
- CADD 21.50
- PolyPhen-2 0.08
- SIFT 0.54
- ClinVar: Benign (Agammaglobulinemia)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available