A4E (p.Ala4Glu) variant of SPI1 (Transcription factor PU.1)
A4E (p.Ala4Glu) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- cosmic curated COSV57047
- gnomAD rs1273802112
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -1.02
- CADD 25.70
- PolyPhen-2 0.83
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available