P55S (p.Pro55Ser) variant of SPI1 (Transcription factor PU.1)
P55S (p.Pro55Ser) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- TOPMed rs1300739924
- gnomAD rs1300739924
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.01
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available