S40C (p.Ser40Cys) variant of SPI1 (Transcription factor PU.1)
S40C (p.Ser40Cys) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S40C (p.Ser40Cys) variant details
- p.Ser40Cys
- rs1595853070
- gnomAD 11-47355500-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- CADD 5.61
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available