Y38H (p.Tyr38His) variant of SPI1 (Transcription factor PU.1)
Y38H (p.Tyr38His) 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 0.34 / 1. The record also includes population frequency data and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- gnomAD rs1454127715
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -0.89
- CADD 27.70
- PolyPhen-2 0.73
- SIFT 0.48
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available