P78S (p.Pro78Ser) variant of SPI1 (Transcription factor PU.1)
P78S (p.Pro78Ser) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- ExAC rs772416102
- TOPMed rs772416102
- gnomAD rs772416102
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -0.98
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available