R86H (p.Arg86His) variant of SPI1 (Transcription factor PU.1)
R86H (p.Arg86His) 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 0.38 / 1. The record also includes population frequency data and structural context.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs1370001180
- TOPMed rs1370001180
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.97
- CADD 24.40
- PolyPhen-2 0.84
- SIFT 0.03
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available