C5Y (p.Cys5Tyr) variant of SPI1 (Transcription factor PU.1)
C5Y (p.Cys5Tyr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C5Y (p.Cys5Tyr) variant details
- p.Cys5Tyr
- ExAC rs751720363
- gnomAD rs751720363
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.07
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available