T71M (p.Thr71Met) variant of SPI1 (Transcription factor PU.1)
T71M (p.Thr71Met) 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 0.44 / 1. The record also includes population frequency data and structural context.
T71M (p.Thr71Met) variant details
- p.Thr71Met
- cosmic curated COSV99908
- ExAC rs769051484
- gnomAD rs769051484
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.25
- MetaLR 0.18
- MetaSVM -0.73
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available