G43A (p.Gly43Ala) variant of SPI1 (Transcription factor PU.1)
G43A (p.Gly43Ala) 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 0.29 / 1. The record also includes population frequency data and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- ExAC rs755460569
- gnomAD rs755460569
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.10
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available