P78T (p.Pro78Thr) variant of SPI1 (Transcription factor PU.1)
P78T (p.Pro78Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- rs772416102
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57046
- ExAC rs772416102
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.73
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available