C5G (p.Cys5Gly) variant of SPI1 (Transcription factor PU.1)
C5G (p.Cys5Gly) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
C5G (p.Cys5Gly) variant details
- p.Cys5Gly
- TOPMed rs2095945146
- gnomAD rs2095945146
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.09
- CADD 24.30
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available