H104Y (p.His104Tyr) variant of SPI1 (Transcription factor PU.1)
H104Y (p.His104Tyr) 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 0.35 / 1. The record also includes population frequency data and structural context.
H104Y (p.His104Tyr) variant details
- p.His104Tyr
- ExAC rs750423772
- gnomAD rs750423772
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -0.93
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available