Y23C (p.Tyr23Cys) variant of SPI1 (Transcription factor PU.1)
Y23C (p.Tyr23Cys) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- TOPMed rs1238645940
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.34
- MetaLR 0.19
- MetaSVM -0.71
- CADD 28.00
- PolyPhen-2 0.96
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available