A127D (p.Ala127Asp) variant of SPI1 (Transcription factor PU.1)
A127D (p.Ala127Asp) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
A127D (p.Ala127Asp) variant details
- p.Ala127Asp
- TOPMed rs1325897682
- gnomAD rs1325897682
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.03
- AlphaMissense 0.26
- MetaLR 0.32
- MetaSVM -0.33
- CADD 22.20
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available