D24N (p.Asp24Asn) variant of SPI1 (Transcription factor PU.1)
D24N (p.Asp24Asn) 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 0.40 / 1. The record also includes population frequency data and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- gnomAD rs1329451155
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.71
- CADD 25.90
- SIFT 0.10
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available