R30H (p.Arg30His) variant of SPI1 (Transcription factor PU.1)
R30H (p.Arg30His) 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.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs770273178
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57044
- ExAC rs770273178
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.30
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available