V58M (p.Val58Met) variant of SPI1 (Transcription factor PU.1)
V58M (p.Val58Met) 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 0.14 / 1. The record also includes population frequency data and structural context.
V58M (p.Val58Met) variant details
- p.Val58Met
- ExAC rs757424163
- TOPMed rs757424163
- gnomAD rs757424163
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.00
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available