H94N (p.His94Asn) variant of SPI1 (Transcription factor PU.1)
H94N (p.His94Asn) 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 0.30 / 1. The record also includes population frequency data and structural context.
H94N (p.His94Asn) variant details
- p.His94Asn
- TOPMed rs1434340659
- gnomAD rs1434340659
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.07
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available