T32M (p.Thr32Met) variant of SPI1 (Transcription factor PU.1)
T32M (p.Thr32Met) 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 0.24 / 1. The record also includes population frequency data and structural context.
T32M (p.Thr32Met) variant details
- p.Thr32Met
- ExAC rs748468072
- TOPMed rs748468072
- gnomAD rs748468072
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.02
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available