S75N (p.Ser75Asn) variant of SPI1 (Transcription factor PU.1)
S75N (p.Ser75Asn) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S75N (p.Ser75Asn) variant details
- p.Ser75Asn
- TOPMed rs1730387730
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -0.95
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available