C5S (p.Cys5Ser) variant of SPI1 (Transcription factor PU.1)
C5S (p.Cys5Ser) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C5S (p.Cys5Ser) variant details
- p.Cys5Ser
- gnomAD 11-47355503-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 13.30
- SIFT 0.11
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available