A4T (p.Ala4Thr) variant of SPI1 (Transcription factor PU.1)
A4T (p.Ala4Thr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD rs1307052870
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.00
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.92
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available